First Steps When Your DNA Results are Ready – Sticking Your Toe in the Genealogy Water

Posted on August 6, 2019 by Roberta Estes

First steps helix

Recently someone asked me what the first steps would be for a person who wasn’t terribly familiar with genealogy and had just received their DNA test results.

I wrote an article called DNA Results – First Glances at Ethnicity and Matching which was meant to show new folks what the various vendor interfaces look like. I was hoping this might whet their appetites for more, meaning that the tester might, just might, stick their toe into the genealogy waters😊

I’m hoping this article will help them get hooked! Maybe that’s you!

A Guide

This article can be read in one of two ways – as an overview, or, if you click the links, as a pretty thorough lesson. If you’re new, I strongly suggest reading it as an overview first, then a second time as a deeper dive. Use it as a guide to navigate your results as you get your feet wet.

I’ll be hotlinking to various articles I’ve written on lots of topics, so please take a look at details (eventually) by clicking on those links!

This article is meant as a guideline for what to do, and how to get started with your DNA matching results!

If you’re looking for ethnicity information, check out the First Glances article, plus here and here and here.

Concepts – Calculating Ethnicity Percentages provides you with guidelines for how to estimate your own ethnicity percentages based on your known genealogy and Ethnicity Testing – A Conundrum explains how ethnicity testing is done.

OK, let’s get started. Fun awaits!

The Goal

The goal for using DNA matching in genealogy depends on your interests.

To discover cousins and family members that you don’t know. Some people are interested in finding and meeting relatives who might have known their grandparents or great-grandparents in the hope of discovering new family information or photos they didn’t know existed previously. I’ve been gifted with my great-grandparent’s pictures, so this strategy definitely works!
To confirm ancestors. This approach presumes that you’ve done at least a little genealogy, enough to construct at least a rudimentary tree. Ancestors are “confirmed” when you DNA match multiple other people who descend from the same ancestor through multiple children. I wrote an article, Ancestors: What Constitutes Proof?, discussing how much evidence is enough to actually confirm an ancestor. Confirmation is based on a combination of both genealogical records and DNA matching and it varies depending on the circumstances.
Adoptees and people with unknown parents seeking to discover the identities of those people aren’t initially looking at their own family tree – because they don’t have one yet. The genealogy of others can help them figure out the identity of those mystery people. I wrote about that technique in the article, Identifying Unknown Parents and Individuals Using DNA Matching.

DNAAdoption for Everyone

Educational resources for adoptees and non-adoptees alike can be found at www.dnaadoption.org. DNAAdoption is not just for adoptees and provides first rate education for everyone. They also provide trained and mentored search angels for adoptees who understand the search process along with the intricacies of navigating the emotional minefield of adoption and unknown parent searches.

“First Look” classes for each vendor are free for everyone at DNAAdoption and are self-paced, downloadable onto your computer as a pdf file. Intro to DNA, Applied Autosomal DNA and Y DNA Basics classes are nominally priced at between $29 and $49 and I strongly recommend these. DNAAdoption is entirely non-profit, so your class fee or contribution supports their work. Additional resources can be found here and their 12 adoptee search steps here.

Ok, now let’s look at your results.

Matches are the Key

Regardless of your goal, your DNA matches are the key to finding answers, whether you want to make contact with close relatives, prove your more distant ancestors or you’re involved in an adoptee or unknown parent search.

Your DNA matches that of other people because each of you inherited a piece of DNA, called a segment, where many locations are identical. The length of that DNA segment is measured in centiMorgans and those locations are called SNPs, or single nucleotide polymorphisms. You can read about the definition of a centimorgan and how they are used in the article Concepts – CentiMorgans, SNPs and Pickin’Crab.

While the scientific details are great, they aren’t important initially. What is important is to understand that the more closely you match someone, the more closely you are related to them. You share more DNA with close relatives than more distant relatives.

For example, I share exactly half of my mother’s DNA, but only about 25% of each of my grandparents’ DNA. As the relationships move further back in time, I share less and less DNA with other people who descend from those same ancestors.

Informational Tools

Every vendor’s match page looks different, as was illustrated in the First Glances article, but regardless, you are looking for four basic pieces of information:

Who you match
How much DNA you share with your match
Who else you and your match share that DNA with, which suggests that you all share a common ancestor
Family trees to reveal the common ancestor between people who match each other

Every vendor has different ways of displaying this information, and not all vendors provide everything. For example, 23andMe does not support trees, although they allow you to link to one elsewhere. Ancestry does not provide a tool called a chromosome browser which allows you to see if you and others match on the same segment of DNA. Ancestry only tells you THAT you match, not HOW you match.

Each vendor has their strengths and shortcomings. As genealogists, we simply need to understand how to utilize the information available.

I’ll be using examples from all 4 major vendors:

Your matches are the most important information and everything else is based on those matches.

Family Tree DNA

I have tested many family members from both sides of my family at Family Tree DNA using the Family Finder autosomal test which makes my matches there incredibly useful because I can see which family members, in addition to me, my matches match.

Family Tree DNA assigns matches to maternal and paternal sides in a unique way, even if your parents haven’t tested, so long as some close relatives have tested. Let’s take a look.

First Steps Family Tree DNA matches.png

Sign on to your account and click to see your matches.

At the top of your Family Finder matches page, you’ll see three groups of things, shown below.

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A row of tools at the top titled Chromosome Browser, In Common With and Not in Common With.

A second row of tabs that include All, Paternal, Maternal and Both. These are the maternal and paternal tabs I mentioned, meaning that I have a total of 4645 matches, 988 of which are from my paternal side and 847 of which are from my maternal side.

Family Tree DNA assigns people to these “buckets” based on matches with third cousins or closer if you have them attached in your tree. This is why it’s critical to have a tree and test close relatives, especially people from earlier generations like aunts, uncles, great-aunts/uncles and their children if they are no longer living.

If you have one or both parents that can test, that’s a wonderful boon because anyone who matches you and one of your parents is automatically bucketed, or phased (scientific term) to that parent’s side of the tree. However, at Family Tree DNA, it’s not required to have a parent test to have some matches assigned to maternal or paternal sides. You just need to test third cousins or closer and attach them to the proper place in your tree.

How does bucketing work?

Maternal or Paternal “Side” Assignment, aka Bucketing

If I match a maternal first cousin, Cheryl, for example, and we both match John Doe on the same segment, John Doe is automatically assigned to my maternal bucket with a little maternal icon placed beside the match.

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Every vendor provides an estimated or predicted relationship based on a combination of total centiMorgans and the longest contiguous matching segment. The actual “linked relationship” is calculated based on where this person resides in your tree.

The common surnames at far right are a very nice features, but not every tester provides that information. When the testers do include surnames at Family Tree DNA, common surnames are bolded. Other vendors have similar features.

People with trees are shown near their profile picture with a blue pedigree icon. Clicking on the pedigree icon will show you their ancestors. Your matches estimated relationship to you indicates how far back you should expect to share an ancestor.

For example, first cousins share grandparents. Second cousins share great-grandparents. In general, the further back in time your common ancestor, the less DNA you can be expected to share.

You can view relationship information in chart form in my article here or utilize DNAPainter tools, here, to see the various possibilities for the different match levels.

Clicking on the pedigree chart of your match will show you their tree. In my tree, I’ve connected my parents in their proper places, along with Cheryl and Don, mother’s first cousins. (Yes, they’ve given permission for me to utilize their results, so they aren’t always blurred in images.)

Cheryl and Don are my first cousins once removed, meaning my mother is their first cousin and I’m one generation further down the tree. I’m showing the amount of DNA that I share with each of them in red in the format of total DNA shared and longest unbroken segment, taken from the match list. So 382-53 means I share a total of 382 cM and 53 cM is the longest matching block.

First Steps Family Tree DNA tree.png

The Chromosome Browser

Utilizing the chromosome browser, I can see exactly where I match both Don and Cheryl. It’s obvious that I match them on at least some different pieces of my DNA, because the total and longest segment amounts are different.

The reason it’s important to test lots of close relatives is because even siblings inherit different pieces of DNA from their parents, and they don’t pass the same DNA to their offspring either – so in each generation the amount of shared DNA is probably reduced. I say probably because sometimes segments are passed entirely and sometimes not at all, which is how we “lose” our ancestors’ DNA over the generations.

Here’s a matching example utilizing a chromosome browser.

First Steps Family Tree DNA chromosome browser.png

I clicked the checkboxes to the left of both Cheryl and Don on the match page, then the Chromosome Browser button, and now you can see, above, on chromosomes 1-16 where I match Cheryl (blue) and Don (red.)

In this view, both Don and Cheryl are being compared to me, since I’m the one signed in to my account and viewing my DNA matches. Therefore, one of the bars at each chromosome represents Don’s DNA match to me and one represents Cheryl’s. Cheryl is the first person and Don is the second. Person match colors (red and blue) are assigned arbitrarily by the system.

My grandfather and Cheryl/Don’s father, Roscoe, were siblings.

You can see that on some segments, my grandfather and Roscoe inherited the same segment of DNA from their parents, because today, my mother gave me that exact same segment that I share with both Don and Cheryl. Those segments are exactly identical and shown in the black boxes.

The only way for us to share this DNA today is for us to have shared a common ancestor who gave it to two of their children who passed it on to their descendants who DNA tested today.

On other segments, in red boxes, I share part of the same segments of DNA with Cheryl and Don, but someone along the line didn’t inherit all of that segment. For example on chromosome 3, in the red box, you can see that I share more with Cheryl (blue) than Don (red.)

In other cases, I share with either Don or Cheryl, but Don and Cheryl didn’t inherit that same segment of DNA from their father, so I don’t share with both of them. Those are the areas where you see only blue or only red.

On chromosome 12, you can see where it looks like Don’s and Cheryl’s segments butt up against each other. The DNA was clearly divided there. Don received one piece and Cheryl got the other. That’s known as a crossover and you can read about crossovers here, if you’d like.

It’s important to be able to view segment information to be able to see how others match in order to identify which common ancestor that DNA came from.

In Common With

You can use the “In Common With” tool to see who you match in common with any match. My first 6 matches in common with Cheryl are shown below. Note that they are already all bucketed to my maternal side.

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You can click on up to 7 individuals in the check box at left to show them on the chromosome browser at once to see if they match you on common segments.

Each matching segment has its own history and may descend from a different ancestor in your common tree.

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If combinations of people do match me on a common segment, because these matches are all on my maternal side, they are triangulated and we know they have to descend from a common ancestor, assuming the segment is large enough. You can read about the concept of triangulation here. Triangulation occurs when 3 or more people (who aren’t extremely closely related like parents or siblings) all match each other on the same reasonably sized segment of DNA.

If you want to download your matches and work through this process in a spreadsheet, that’s an option too.

Size Matters

Small segments can be identical by chance instead of identical by descent.

“Identical by chance” means that you accidentally match someone because your DNA on that segment has been combined from both parents and causes it to match another person, making the segment “looks like” it comes from a common ancestor, when it really doesn’t. When DNA is sequenced, both your mother and father’s strands are sequenced, meaning that there’s no way to determine which came from whom. Think of a street with Mom’s side and Dad’s side with identical addresses on the houses on both sides. I wrote about that here.
“Identical by descent” means that the DNA is identical because it actually descends from a common ancestor. I discussed that concept in the article, We Match, But Are We Related.

Generally, we only utilize 7cM (centiMorgan) segments and above because at that level, about half of the segments are identical by descent and about half are identical by chance, known as false positives. By the time we move above 15 cM, most, but not all, matches are legitimate. You can read about segment size and accuracy here.

Using “In Common With” and the Matrix

“In Common With” is about who shares DNA. You can select someone you match to see who else you BOTH match. Just because you match two other people doesn’t necessarily mean that it’s on the same segment of DNA. In fact, you could match one person from your mother’s side and the other person from your father’s side.

First Steps match matrix.png

In this example, you match Person B due to ancestor John Doe and Person C due to ancestor Susie Smith. However, Person B also matches person C, but due to ancestor William West that they share and you don’t.

This example shows you THAT they match, but not HOW they match.

The only way to assure that the matches between the three people above are due to the same ancestor is to look at the segments with a chromosome browser and compare all 3 people to each other. Finding 3 people who match on the same segment, from the same side of your tree means that (assuming a reasonably large segment) you share a common ancestor.

Family Tree DNA has a nice matrix function that allows you to see which of your matches also match each other.

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The important distinction between the matrix and the chromosome browser is that the chromosome browser shows you where your matches match you, but those matches could be from both sides of your tree, unless they are bucketed. The matrix shows you if your matches also match each other, which is a huge clue that they are probably from the same side of your tree.

First Steps Family Tree DNA matrix.png

A matrix match is a significant clue in terms of who descends from which ancestors. For example, I know, based on who Amy matches, and who she doesn’t match, that she descends from the Ferverda side and that Charles, Rex and Maxine descend from ancestors on the Miller side.

Looking in the chromosome browser, I can tell that Cheryl, Don, Amy and I match on some common segments.

Matching multiple people on the same segment that descends from a common ancestor is called triangulation.

Let’s take a look at the MyHeritage triangulation tool.

MyHeritage

Moving now to MyHeritage who provides us with an easy to use triangulation tool, we see the following when clicking on DNA matches on the DNA tab on the toolbar.

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Cousin Cheryl is at MyHeritage too. By clicking on Review DNA Match, the purple button on the right, I can see who else I match in common with Cheryl, plus triangulation.

The list of people Cheryl and I both match is shown below, along with our relationships to each person.

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I’ve selected 2 matches to illustrate.

The first match has a little purple icon to the right which means that Amy triangulates with me and Cheryl.

The second match, Rex, means that while we both match Rex, it’s not on the same segment. I know that without looking further because there is no triangulation button. We both match Rex, but Cheryl matches Rex on a different segment than I do.

Without additional genealogy work, using DNA alone, I can’t say whether or not Cheryl, Rex and I all share a common ancestor. As it turns out, we do. Rex is a known cousin who I tested. However, in an unknown situation, I would have to view the trees of those matches to make that determination.

Triangulation

Clicking on the purple triangulation icon for Amy shows me the segments that all 3 of us, me, Amy and Cheryl share in common as compared to me.

First Steps MyHeritage triangulation chromosome browser.png

Cheryl is red and Amy is yellow. The one segment bracketed with the rounded rectangle is the segment shared by all 3 of us.

Do we have a common ancestor? I know Cheryl and I do, but maybe I don’t know who Amy is. Let’s look at Amy’s tree which is also shown if I scroll down.

First Steps MyHeritage common ancestor.png

Amy didn’t have her tree built out far enough to show our common ancestor, but I immediately recognized the surname Ferveda found in her tree a couple of generations back. Darlene was the daughter of Donald Ferverda who was the son of Hiram Ferverda, my great-grandfather.

Hiram was the father of Cheryl’s father, Roscoe and my grandfather, John Ferverda.

First Steps Hiram Ferverda pedigree.png

Amy is my first cousin twice removed and that segment of DNA that I share with her is from either Hiram Ferverda or his wife Eva Miller.

Now, based on who else Amy matches, I can probably tell whether that segment descends from Hiram or Eva.

Viva triangulation!

Theory of Family Relativity

MyHeritage’s Theory of Family Relativity provides theories to people whose DNA matches regarding their common ancestor if MyHeritage can calculate how the 2 people are potentially related.

MyHeritage uses a combination of tools to make that connection, including:

DNA matches
Your tree
Your match’s tree
Other people’s trees at MyHeritage, FamilySearch and Geni if the common ancestor cannot be found in your tree compared against your DNA match’s MyHeritage
Documents in the MyHeritage data collection, such as census records, for example.

MyHeritage theory update

To view the Theories, click on the purple “View Theories” banner or “View theory” under the DNA match.

First Steps MyHeritage theory of relativity

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The theory is displayed in summary format first.

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You can click on the “View Full Theory” to see the detail and sources about how MyHeritage calculated various paths. I have up to 5 different theories that utilize separate resources.

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A wonderful aspect of this feature is that MyHeritage shows you exactly the information they utilized and calculates a confidence factor as well.

All theories should be viewed as exactly that and should be evaluated critically for accuracy, taking into consideration sources and documentation.

I wrote about using Theories of Relativity, with instructions, here and here.

I love this tool and find the Theories mostly accurate.

AncestryDNA

Ancestry doesn’t offer a chromosome browser or triangulation but does offer a tree view for people that you match, so long as you have a subscription. In the past, a special “Light” subscription for DNA only was available for approximately $49 per year that provided access to the trees of your DNA matches and other DNA-related features. You could not order online and had to call support, sometimes asking for a supervisor in order to purchase that reduced-cost subscription. The “Light” subscription did not provide access to anything outside of DNA results, meaning documents, etc. I don’t know if this is still available.

After signing on, click on DNA matches on the DNA tab on the toolbar.

You’ll see the following match list.

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I’ve tested twice at Ancestry, the second time when they moved to their new chip, so I’m my own highest match. Click on any match name to view more.

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You’ll see information about common ancestors if you have some in your trees, plus the amount of shared DNA along with a link to Shared Matches.

I found one of the same cousins at Ancestry whose match we were viewing at MyHeritage, so let’s see what her match to me at Ancestry looks like.

Below are my shared matches with that cousin. The notes to the right are mine, not provided by Ancestry. I make extensive use of the notes fields provided by the vendors.

First Steps Ancestry shared matches with cousin

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On your match list, you can click on any match, then on Shared Matches to see who you both match in common. While Ancestry provides no chromosome browser, you can see the amount of DNA that you share and trees, if any exist.

Let’s look at a tree comparison when a common ancestor can be detected in a tree within the past 7 generations.

First Steps Ancestry view ThruLines.png

What’s missing of course is that I can’t see how we match because there’s no chromosome browser, nor can I see if my matches match each other.

Stitched Trees

What I can see, if I click on “View ThruLines” above or ThruLines on the DNA Summary page on the main DNA tab is all of the people I match who Ancestry THINKS we descend from a common ancestor. This ancestor information isn’t always taken from either person’s tree.

For example, if my match hadn’t included Hiram Ferverda in her tree, Ancestry would use other people’s trees to “stitch them together” such that the tester is shown to be descended from a common ancestor with me. Sometimes these stitched trees are accurate and sometimes they are not, although they have improved since they were first released. I wrote about ThruLines here.

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In closer generations, especially if you are looking to connect with cousins, tree matching is a very valuable tool. In the graphic above, you can see all of the cousins who descend from Hiram Ferverda who have tested and DNA match to me. These DNA matches to me either descend from Hiram according to their trees, or Ancestry believes they descend from Hiram based on other people’s trees.

With more distant ancestors, other people’s trees are increasingly likely to be copied with no sources, so take them with a very large grain of salt (perchance the entire salt lick.) I use ThruLines as hints, not gospel, especially the further back in time the common ancestor. I wish they reached back another couple of generations. They are great hints and they end with the 7th generation where my brick walls tend to begin!

23andMe

I haven’t mentioned 23andMe yet in this article. Genealogists do test there, especially adoptees who need to fish in every pond.

23andMe is often the 4^th choice of the major 4 vendors for genealogy due to the following challenges:

No tree support, other than allowing you to link to a tree at FamilySearch or elsewhere. This means no tree matching.
Less than 2000 matches, meaning that every person is limited to a maximum of 2000 matches, minus however many of those 2000 don’t opt-in for genealogical matching. Given that 23andMe’s focus is increasingly health, my number of matches continues to decrease and is currently just over 1500. The good news is that those 1500 are my highest, meaning closest matches. The bad news is the genealogy is not 23andMe’s focus.

If you are an adoptee, a die-hard genealogist or specifically interested in ethnicity, then test at 23andMe. Otherwise all three of the other vendors would be better choices.

However, like the other vendors, 23andMe does have some features that are unique.

Their ethnicity predictions are acknowledged to be excellent. Ethnicity at 23andMe is called Ancestry Composition, and you’ll see that immediately when you sign in to your account.

First Steps 23andMe DNA Relatives.png

Your matches at 23andMe are found under DNA Relatives.

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At left, you’ll find filters and the search box.

Mom’s and Dad’s side filter matches if you’ve tested your parents, but it’s not like the Family Tree DNA bucketing that provides maternal and paternal side bucketing by utilizing through third cousins if your parents aren’t available for testing.

Family names aren’t your family names, but the top family names that match to you. Guess what my highest name is? Smith.

However, Ancestor Birthplaces are quite useful because you can sort by country. For example, my mother’s grandfather Ferverda was born in the Netherlands.

First Steps 23andMe country.png

If I click on Netherlands, I can see my 5 matches with ancestors born in the Netherlands. Of course, this doesn’t mean that I match because of my match’s Dutch ancestors, but it does provide me with a place to look for a common ancestor and I can proceed by seeing who I match in common with those matches. Unfortunately, without trees we’re left to rely on ancestor birthplaces and family surnames, if my matches have entered that information.

One of my Dutch matches also matches my Ferverda cousin. Given that connection, and that the Ferverda family immigrated from Holland in 1868, that’s a starting point.

MyHeritage has a similar features and they are much more prevalent in Europe.

By clicking on my Ferverda cousin, I can view the DNA we share, who we match in common, our common ethnicity and more. I have the option of comparing multiple people in the chromosome browser by clicking on “View DNA Comparison” and then selecting who I wish to compare.

First Steps 23andMe view DNA Comparison.png

By scrolling down instead of clicking on View DNA Comparison, I can view where my Ferverda cousin matches me on my chromosomes, shown below.

First STeps 23andMe chromosome browser.png

23andMe identifies completely identical segments which would be painted in dark purple, the legend at bottom left.

Adoptees love this feature because it would immediately differentiate between half and full siblings. Full siblings share approximately 25% of the exact DNA on both their maternal and paternal strands of DNA, while half siblings only share the DNA from one parent – assuming their parents aren’t closely related. I share no completely identical DNA with my Ferverda cousin, so no segments are painted dark purple.

23andMe and Ancestry Maps Show Where Your Matches Live

Another reason that adoptees and people searching for birth parents or unknown relatives like 23andMe is because of the map function.

After clicking on DNA Relatives, click on the Map function at the top of the page which displays the following map.

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This isn’t a map of where your matches ancestors lived, but is where your matches THEMSELVES live. Furthermore, you can zoom in, click on the button and it displays the name of the individual and the city where they live or whatever they entered in the location field.

First Steps 23andMe your location on map.png

I entered a location in my profile and confirmed that the location indeed displays on my match’s maps by signing on to another family member’s account. What I saw is the display above. I’d wager that most testers don’t realize that their home location and photo, if entered, is being displayed to their matches.

I think sharing my ancestors’ locations is a wonderful, helpful, idea, but there is absolutely no reason whatsoever for anyone to know where I live and I feel it’s stalker-creepy and a safety risk.

First Steps 23andMe questions.png

If you enter a location in this field in your profile, it displays on the map.

If you test with 23andMe and you don’t want your location to display on this map to your matches, don’t answer any question that asks you where you call home or anything similar. I never answer any questions at 23andMe. They are known for asking you the same question repeatedly, in multiple locations and ways, until you relent and answer.

Ancestry has a similar map feature and they’ve also begun to ask you questions that are unrelated to genealogy.

Ancestry Map Shows Where Your Matches Live

At Ancestry, when you click to see your DNA matches, look to the right at the map link.

First Steps Ancestry map link.png

By clicking on this link, you can see the locations that people have entered into their profile.

First Steps Ancestry match map.png

As you can see, above, I don’t have a location entered and I am prompted for one. Note that Ancestry does specifically say that this location will be shown to your matches.

You can click on the Ancestry Profile link here, or go to your Personal Profile by click the dropdown under your user name in the upper right hand corner of any page.

This is important because if you DON’T want your location to show, you need to be sure there is nothing entered in the location field.

Under your profile, click “Edit.”

After clicking edit, complete the information you wish to have public or remove the information you do not.

Sometimes Your Answer is a Little More Complicated

This is a First Steps article. Sometimes the answer you seek might be a little more complicated. That’s why there are specialists who deal with this all day, everyday.

What issues might be more complex?

Endogamy
Full vs Half Siblings – you can find an article here
NPE or MPE meaning NonPaternal or NonParental Event or Misattributed Parentage, also sometimes known as undocumented adoptions – this generally means when the expected father isn’t the biological father, in the current generation or past ones
Intermarriage – for example, first cousins (yes, that was common back in the day)
X Chromosome Matching which is actually a very cool genealogical tool with a unique inheritance path

If you’re just starting out, don’t worry about these things for now. Just know when you run into something more complex or that doesn’t make sense, I’m here and so are others. Here’s a link to my Help page.

Getting Started

What do you need to get started?

You need to take a DNA test, or more specifically, multiple DNA tests. You can test at Ancestry or 23andMe and transfer your results to both Family Tree DNA and MyHeritage, or you can test directly at all vendors.

Neither Ancestry nor 23andMe accept uploads, meaning other vendors tests, but both MyHeritage and Family Tree DNA accept most file versions. Instructions for how to download and upload your DNA results are found below, by vendor:

Both MyHeritage and Family Tree DNA charge a minimal fee to unlock their advanced features such as chromosome browsers and ethnicity if you upload transfer files, but it’s less costly in both cases than testing directly. However, if you want the MyHeritage DNA plus Health or the Family Tree DNA Y DNA or Mitochondrial DNA tests, you must test directly at those companies for those tests.

It’s not required, but it would be in your best interest to build as much of a tree at all three vendors as you can. Every little bit helps.

Your first tree-building step should be to record what your family knows about your grandparents and great-grandparents, aunts and uncles. Here’s what my first step attempt looked like. It’s cringe-worthy now, but everyone has to start someplace. Just do it!

You can build a tree at either Ancestry or MyHeritage and download your tree for uploading at the other vendors. Or, you can build the tree using genealogy software on your computer and upload to all 3 places. I maintain my primary tree on my computer using RootsMagic. There are many options. MyHeritage even provides free tree builder software.

Both Ancestry and MyHeritage offer research/data subscriptions that provide you with hints to historical documents that increase what you know about your ancestors. The MyHeritage subscription can be tried for free. I have full subscriptions to both Ancestry and MyHeritage because they both include documents in their collections that the other does not.

Please be aware that document suggestions are hints and each one needs to be evaluated in the context of what you know and what’s reasonable. For example, if your ancestor was born in 1750, they are not included in the 1900 census, nor do women have children at age 70. People do have exactly the same names. FindAGrave information is entered by humans and is not always accurate. Just sayin’…

Evaluate critically and skeptically.

Ok, Let’s Go!

When your DNA results are ready, sign on to each vendor, look at your matches and use this article to begin to feel your way around. It’s exciting and the promise is immense. Feel free to share the link to this article on social media or with anyone else who might need help.

You are the cumulative product of your ancestors. What better way to get to know them than through their DNA that’s shared between you and your cousins!

What can you discover today?

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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MyHeritage LIVE Conference Day 2 – The Science Behind DNA Matching

Posted on November 6, 2018 by Roberta Estes

The MyHeritage LIVE Oslo conference is but a fond memory now, and I would count it as a resounding success.

Perhaps one of the reasons I enjoyed it so much is the scientific aspect and because the content is very focused on a topic I enjoy without being the size and complexity of Rootstech. The smaller, more intimate venue also provides access to the “right” people as well as the ability to meet other attendees and not be overwhelmed by the sheer size.

Here are some stats:

401 registered guests
28 countries represented including distant places like Australia and South America
More than 20 speakers plus the hands-on workshops where specialist teams worked with students
38 sessions and workshops, plus the party
60,000 livestream participants, in spite of the time differences around the world

I was blown away by the number of livestream attendees.

I don’t know what criteria Gilad Japhet will be using to determine “success” but I can’t imagine this conference being judged as anything but.

Let’s take a look at the second day. I spent part of the time talking to people and drifting in and out of the rear of several sessions for a few minutes. I meant to visit some of the workshops, but there was just too much good, distracting content elsewhere.

I began Sunday in Mike Mansfield’s presentation about SuperSearch. Yes, I really did attend a few sessions not about DNA, but my favorite was the session on Improved DNA Matching.

Improved DNA Matching

I’m sure it won’t surprise any of my readers that my favorite presentations were about the actual science of genetic genealogy.

Consumers don’t really need to understand the science behind autosomal results to reap the benefits, but the underlying science is part of what I love – and it’s important for me to understand the underpinnings to be able to unravel the fine points of what the resulting matches are and are not revealing. Misinterpretation of DNA results leading to faulty conclusions is a real issue in genetic genealogy today. Consequently, I feel that anyone working with other people’s results and providing advice really needs to understand how the science and technology together works.

Dr. Daphna Weissglas-Volkov, a population geneticist by training, although she clearly functions far beyond that scope today, gave a very interesting presentation about how MyHeritage handles (their greatly improved) DNA Matching. I’m hitting the high points here, but I would strongly encourage you to watch the video of this session when they are made available online.

In addition to Dr. Weissglas-Volkov’s slides, I’ve added some additional explanations and examples in various places. You can easily tell that the slides are hers and the graphics that aren’t MyHeritage slides are mine.

Dr. Weissglas-Volkov began the session by introducing the MyHeritage science team and then explaining terminology to set the stage.

A match is when two people match each other on a fairly long piece of DNA. Of course, “fairly long” is defined differently by each vendor.

Your genetic map (of your chromosomes) is comprised of the DNA you inherit from different ancestors by the process of recombination when DNA is transferred from the parents to the child. A centiMorgan is the relatively likelihood that a recombination will occur in a single generation. On average, 36 recombinations occur in each generation, meaning that the DNA is divided on any chromosome. However, women, for reasons unknown have about 1.5 times as many recombinations as men.

You can’t see that when looking at an example of a person compared to their parents, of course, because each individual is a full match to each parent, but you can see this visually when comparing a grandchild to their maternal grandmother and their paternal grandmother on a chromosome browser.

The above illustration is the same female grandchild compared to her maternal grandmother, at left, and her paternal grandmother at right. Therefore the number of crossovers at left is through a female child (her mother), and the number at right is through a male child (her father.)

	# of Crossovers
Through female child – left	57
Through male child – right	22

There are more segments at left, through the mother, and the segments are generally shorter, because they have been divided into more pieces.

At right, fewer and larger segments through the father.

Keep in mind that because you have a strand of DNA from each parent, with exactly the same “street addresses,” that what is produced by DNA sequencing are two columns of data – but your Mom’s and Dad’s DNA is intermixed.

The information in the two columns can’t be identified as Mom’s or Dad’s DNA or strand at this point.

That interspersed raw data is called a genotype. A haplotype is when Mom’s and Dad’s DNA can be reassembled into “sides” so you can attribute the two letters at each address to either Mom or Dad.

Here’s a quick example.

The goal, of course, is to figure out how to reassemble your DNA into Mom’s side and Dad’s side so that we know that someone matching you is actually matching on all As (Mom) or all Gs (Dad,) in this example, and not a false match that zigzags back and forth between Mom and Dad.

The best way to accomplish that goal of course is trio phasing, when the child and both parents are available, so by comparing the child’s DNA with the parents you can assign the two strands of the child’s DNA.

Unfortunately, few people have both or even one parent available in order to actual divide their DNA into “sides,” so the next best avenue is statistical phasing. I’ve called this academic phasing in the past, as compared to parental phasing which MyHeritage refers to as trio phasing.

There’s a huge amount of confusion about phasing, with few people understanding there are two distinct types.

Statistical phasing is a type of machine learning where a large number of reference populations are studied. Since we know that DNA travels together in blocks when inherited, statistical phasing learns which DNA travels with which buddy DNA – and creates probabilities. Your DNA is then compared to these models and your DNA is reshuffled in order to assemble your DNA into two groups – one representing your Mom’s DNA and one representing your Dad’s DNA, according to statistical probability.

Looking at your genotype, if we know that As group together at those 6 addresses in my example 95% of the time, then we know that the most likely scenario to create a haplotype is that all of the As came from one parent and all of the Gs from the other parent – although without additional information, there is no way to yet assign the maternal and paternal identifier. At this point, we only know parent 1 and parent 2.

In order to train the computers (machine learning) to properly statistically phase testers’ results, MyHeritage uses known relationships of people to teach the machines. In other words, their reference panels of proven haplotypes grows all of the time as parent/child trios test.

Dr. Weissglas-Volkev then moved on to imputation.

When sequencing DNA, not every location reads accurately, so the missing values can be imputed, or “put back” using imputation.

Initially imputation was a hot mess. Not just for MyHeritage, but for all vendors, imputation having been forced upon them (and therefore us) by Illumina’s change to the GSA chip.

However, machine learning means that imputation models improve constantly, and matching using imputation is greatly improved at MyHeritage today.

Imputation can do more than just fill in blanks left by sequencing read errors.

The benefit of imputation to the genetic genealogy community is that vendors using disparate chips has forced vendors that want to allow uploads to utilize imputation to create a global template that incorporates all of the locations from each vendor, then impute the values they don’t actually test for themselves to complete the full template for each person.

In the example below, you can see that no vendor tests all available locations, but when imputation extends the sequences of all testers to the full 1-500 locations, the results can easily be compared to every other tester because every tester now has values in locations 1-500, regardless of which vendor/chip was utilized in their actual testing.

Therefore, using imputation, MyHeritage is able to match between quite disparate chips, such as the traditional Illumina chips (OmniExpress), the custom Ancestry chip and the new GSA chip utilized by 23andMe and LivingDNA.

So, how are matches determined?

Matching

First your DNA and that of another person are scanned for nearly identical seed sequences.

A minimum segment length of 6cM must be identified for further match processing to occur. Anything below 6cM is discarded at this point.

The match is then further evaluated to see if the seed match is of a high enough quality that it should be perfected and should count as a match. Other segments continue to be evaluated as well. If the total matching segment(s) is 8 total cM or greater, it’s considered a valid match. MyHeritage has taken the position that they would rather give you a few accidental false matches than to miss good matches. I appreciate that position.

Window cleaning is how they refer to the process of removing pileup regions known to occur in the human genome. This is NOT the same as Ancestry’s routine that removes areas they determine to be “too matchy” for you individually.

The difference is that in humans, for example, there is a segment of chromosome 6 where, for some reason, almost all humans match. Matching across that segment is not informative for genetic genealogy, so that region along with several others similar in nature are removed. At Ancestry, those genome-wide pileup segments are removed, along with other regions where Ancestry decides that you personally have too many matches. The problem is that for me, these “too matchy” segments are many of my Acadian matches. Acadians are endogamous, so lots of them match each other because as a small intermarried population, they share a great deal of the same DNA. However, to me, because I have one great-grandfather that’s Acadian, that “too matchy” information IS valuable although I understand that it wouldn’t be for someone that is 100% Acadian or Jewish.

In situations such as Ashkenazi Jewish matching, which is highly endogamous, MyHeritage uses a higher matching threshold. Otherwise every Ashkenazi person would match every other Ashkenazi person because they all descend from a small founder population, and for genealogy, that’s not useful.

The last step in processing matches is to establish the confidence level that the match is accurately predicted at the correct level – meaning the relationship range based on the amount of matching DNA and other criteria.

For example, does this match cluster with other proven matches of the same known relationship level?

From several confidence ascertainment steps, a confidence score is assigned to the predicted relationship.

Of course, you as a customer see none of this background processing, just the fact that you do match, the size of the match and the confidence score. That’s what genealogists need!

Matching Versus Triangulation Thresholds

Confusion exists about matching thresholds versus triangulation thresholds.

While any single segment must be over 6 cM in length for the matching process to begin, the actual match threshold at MyHeritage is a total of 8 cM.

I took a look at my lowest match at MyHeritage.

I have two segments, one 6.1 cM segment, and one 6 cM segment that match. It would appear that if I only had one 6 cM segment, it would not show as a match because I didn’t have the minimum 8 cM total.

Triangulation Threshold

However, after you pass that matching criteria and move on to triangulation with a matching individual, you have the option of selecting the triangulation threshold, which is not the same thing as the match threshold. The match threshold does not change, but you can change the triangulation threshold from 2 cM to 8 cM and selections in-between.

In the example below, I’m comparing myself against two known relatives.

You won’t be shown any matches below the 6 cM individual segment threshold, BUT you can view triangulated segments of different sizes. This is because matching segments often don’t line up exactly and the triangulated overlap between several individuals may be very small, but may still be useful information.

Flying your mouse over the location in the bubble, which is the triangulated segment, tells you the size of the triangulated portion. If you selected the 2 cM triangulation, you would see smaller triangulated portions of matches.

Closing Session

The conference was closed by Aaron Godfrey, a super-nice MyHeritage employee from the UK. The closing session is worth watching on the recorded livestream when it becomes available, in part because there are feel good moments.

However, the piece of information I was looking for was whether there will be a MyHeritage LIVE conference in 2019, and if so, where.

I asked Gilad afterwards and he said that they will be evaluating the feedback from attendees and others when making that decision.

So, if you attended or joined the livestream sessions and found value, please let MyHeritage know so that they can factor your feedback onto their decision. If there are topics you’d like to see as sessions, I’m sure they’d love to hear about that too. Me, I’m always voting for more DNA😊

I hope to hear about MyHeritage LIVE 2019, and I’m voting for any of the following locations:

Australia
New Zealand
Israel
Germany
Switzerland

What do you think?

______________________________________________________________

Disclosure

Thank you so much.

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Elizabeth Warren’s Native American DNA Results: What They Mean

Posted on October 16, 2018 by Roberta Estes

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Elizabeth Warren has released DNA testing results after being publicly challenged and derided as “Pochahontas” as a result of her claims of a family story indicating that her ancestors were Native America. If you’d like to read the specifics of the broo-haha, this Washington Post Article provides a good summary, along with additional links.

I personally find name-calling of any type unacceptable behavior, especially in a public forum, and while Elizabeth’s DNA test was taken, I presume, in an effort to settle the question and end the name-calling, what it has done is to put the science of genetic testing smack dab in the middle of the headlines.

This article is NOT about politics, it’s about science and DNA testing. I will tell you right up front that any comments that are political or hateful in nature will not be allowed to post, regardless of whether I agree with them or not. Unfortunately, these results are being interpreted in a variety of ways by different individuals, in some cases to support a particular political position. I’m presenting the science, without the politics.

This is the first of a series of two articles.

I’m dividing this first article into four sections, and I’d ask you to read all four, especially before commenting. A second article, Possibilities – Wringing the Most Out of Your DNA Ethnicity Test will follow shortly about how to get the most out of an ethnicity test when hunting for Native American (or other minority, for you) ethnicity.

Understanding how the science evolved and works is an important factor of comprehending the results and what they actually mean, especially since Elizabeth’s are presented in a different format than we are used to seeing. What a wonderful teaching opportunity.

Family History and DNA Science – How this works.
Elizabeth Warren’s Genealogy
Elizabeth Warren’s DNA Results
Questions and Answers – These are the questions I’m seeing, and my science-based answers.

My second article, Possibilities – Wringing the Most Out of Your DNA Ethnicity Test will include:

Potential – This isn’t all that can be done with ethnicity results. What more can you do to identify that Native ancestor?
Resources with Step by Step Instructions

Now, let’s look at Elizabeth’s results and how we got to this point.

Family Stories and DNA

Every person that grows up in their biological family hears family stories. We have no reason NOT to believe them until we learn something that potentially conflicts with the facts as represented in the story.

In terms of stories handed down for generations, all we have to go on, initially, are the stories themselves and our confidence in the person relating the story to us. The day that we begin to suspect that something might be amiss, we start digging, and for some people, that digging begins with a DNA test for ethnicity.

My family had that same Cherokee story. My great-grandmother on my father’s side who died in 1918 was reportedly “full blooded Cherokee” 60 years later when I discovered she had existed. Her brothers reportedly went to Oklahoma to claim headrights land. There were surely nuggets of truth in that narrative. Family members did indeed to go Oklahoma. One did own Cherokee land, BUT, he purchased that land from a tribal member who received an allotment. I discovered that tidbit later.

What wasn’t true? My great-grandmother was not 100% Cherokee. To the best of my knowledge now, a century after her death, she wasn’t Cherokee at all. She probably wasn’t Native at all. Why, then, did that story trickle down to my generation?

I surely don’t know. I can speculate that it might have been because various people were claiming Native ancestry in order to claim land when the government paid tribal members for land as reservations were dissolved between 1893 and 1914. You can read more about that in this article at the National Archives about the Dawes Rolls, compiled for the Cherokee, Creek, Choctaw, Chickasaw and Seminole for that purpose.

I can also speculate that someone in the family was confused about the brother’s land ownership, especially since it was Cherokee land.

I could also speculate that the confusion might have resulted because her husband’s father actually did move to Oklahoma and lived on Choctaw land.

But here is what I do know. I believed that story because there wasn’t any reason NOT to believe it, and the entire family shared the same story. We all believed it…until we discovered evidence through DNA testing that contradicted the story.

Before we discuss Elizabeth Warren’s actual results, let’s take a brief look at the underlying science.

Enter DNA Testing

DNA testing for ethnicity was first introduced in a very rudimentary form in 2002 (not a typo) and has progressed exponentially since. The major vendors who offer tests that provide their customers with ethnicity estimates (please note the word estimates) have all refined their customer’s results several times. The reference populations improve, the vendor’s internal software algorithms improve and population genetics as a science moves forward with new discoveries.

Note that major vendors in this context mean Family Tree DNA, 23andMe, the Genographic Project and Ancestry. Two newer vendors include MyHeritage and LivingDNA although LivingDNA is focused on England and MyHeritage, who utilizes imputation is not yet quite up to snuff on their ethnicity estimates. Another entity, GedMatch isn’t a testing vendor, but does provide multiple ethnicity tools if you upload your results from the other vendors. To get an idea of how widely the results vary, you can see the results of my tests at the different vendors here and here.

My initial DNA ethnicity test, in 2002, reported that I was 25% Native American, but I’m clearly not. It’s evident to me now, but it wasn’t then. That early ethnicity test was the dinosaur ages in genetic genealogy, but it did send me on a quest through genealogical records to prove that my family member was indeed Native. My father clearly believed this, as did the rest of the family. One of my early memories when I was about four years old was attending a (then illegal) powwow with my Dad.

In order to prove that Elizabeth Vannoy, that great-grandmother, was Native I asked a cousin who descends from her matrilineally to take a mitochondrial DNA test that would unquestionably provide the ethnicity of her matrilineal line – that of her mother’s mother’s mother’s direct line. If she was Native, her haplogroup would be a derivative either A, B, C, D or X. Her mitochondrial DNA was European, haplogroup J, clearly not Native, so Elizabeth Vannoy was not Native on that line of her family. Ok, maybe through her dad’s line then. I was able to find a Vanoy male descendant of her father, Joel Vannoy, to test his Y DNA and he was not Native either. Rats!

Tracking Elizabeth Vannoy’s genealogy back in time provided no paper-trail link to any Native ancestors, but there were and are still females whose surnames and heritage we don’t know. Were they Native or part Native? Possibly. Nothing precludes it, but nothing (yet) confirms it either.

Unexpected Results

DNA testing is notorious for unveiling unexpected results. Adoptions, unknown parents, unexpected ethnicities, previously unknown siblings and half-siblings and more.

Ethnicity is often surprising and sometimes disappointing. People who expect Native American heritage in their DNA sometimes don’t find it. Why?

There is no Native ancestor
The Native DNA has “washed out” over the generations, but they did have a Native ancestor
We haven’t yet learned to recognize all of the segments that are Native
The testing company did not test the area that is Native

Not all vendors test the same areas of our DNA. Each major company tests about 700,000 locations, roughly, but not the same 700,000. If you’re interested in specifics, you can read more about that here.

50-50 Chance

Everyone receives half of their autosomal DNA from each parent.

That means that each parent contributes only HALF OF THEIR DNA to a child. The other half of their DNA is never passed on, at least not to that child.

Therefore, ancestral DNA passed on is literally cut in half in each generation. If your parent has a Native American DNA segment, there is a 50-50 chance you’ll inherit it too. You could inherit the entire segment, a portion of the segment, or none of the segment at all.

That means that if you have a Native ancestor 6 generations back in your tree, you share 1.56% of their DNA, on average. I wrote the article, Ancestral DNA Percentages – How Much of Them is in You? to explain how this works.

These calculations are estimates and use averages. Why? Because they tell us what to expect, on average. Every person’s results will vary. It’s entirely possible to carry a Native (or other ethnic) segment from 7 or 8 or 9 generations ago, or to have none in 5 generations. Of course, these calculations also presume that the “Native” ancestor we find in our tree was fully Native. If the Native ancestor was already admixed, then the percentages of Native DNA that you could inherit drop further.

Why Call Ethnicity an Estimate?

You’ve probably figured out by now that due to the way that DNA is inherited, your ethnicity as reported by the major testing companies isn’t an exact science. I discussed the methodology behind ethnicity results in the article, Ethnicity Testing – A Conundrum.

It is, however, a specialized science known as Population Genetics. The quality of the results that are returned to you varies based on several factors:

World Region – Ethnicity estimates are quite accurate at the continental level, plus Jewish – meaning African, Indo-European, Asian, Native American and Jewish. These regions are more different than alike and better able to be separated.
Reference Population – The size of the population your results are being compared to is important. The larger the reference population, the more likely your results are to be accurate.
Vendor Algorithm – None of the vendors provide the exact nature of their internal algorithms that they use to determine your ethnicity percentages. Suffice it to say that each vendor’s staff includes population geneticists and they all have years of experience. These internal differences are why the estimates vary when compared to each other.
Size of the Segment – As with all genetic genealogy, bigger is better because larger segments stand a better chance of being accurate.
Academic Phasing – A methodology academics and vendors use in which segments of DNA that are known to travel together during inheritance are grouped together in your results. This methodology is not infallible, but in general, it helps to group your mother’s DNA together and your father’s DNA together, especially when parents are not available for testing.
Parental Phasing – If your parents test and they too have the same segment identified as Native, you know that the identification of that segment as Native is NOT a factor of chance, where the DNA of each of your parents just happens to fall together in a manner as to mimic a Native segment. Parental phasing is the ability to divide your DNA into two parts based on your parent’s DNA test(s).
Two Chromosomes – You have two chromosomes, one from your mother and one from your father. DNA testing can’t easily separate those chromosomes, so the exact same “address” on your mother’s and father’s chromosomes that you inherited may carry two different ethnicities. Unless your parents are both from the same ethnic population, of course.

All of these factors, together, create a confidence score. Consumers never see these scores as such, but the vendors return the highest confidence results to their customers. Some vendors include the capability, one way or another, to view or omit lower confidence results.

Parental Phasing – Identical by Descent

If you’re lucky enough to have your parents, or even one parent available to test, you can determine whether that segment thought to be Native came from one of your parents, or if the combination of both of your parent’s DNA just happened to combine to “look” Native.

Here’s an example where the “letters” (nucleotides) of Native DNA for an example segment are shown at left. If you received the As from one of your parents, your DNA is said to be phased to that parent’s DNA. That means that you in fact inherited that piece of your DNA from your mother, in the case shown below.

That’s known as Identical by Descent (IBD). The other possibility is what your DNA from both of your parents intermixed to mimic a Native segment, shown below.

This is known as Identical by Chance (IBC).

You don’t need to understand the underpinnings of this phenomenon, just remember that it can happen, and the smaller the segment, the more likely that a chance combination can randomly happen.

Elizabeth Warren’s Genealogy

Elizabeth Warren’s genealogy, is reported to the 5^th generation by WikiTree.

Elizabeth’s mother, Pauline Herring’s line is shown, at WikiTree, as follows:

Notice that of Elizabeth Warren’s 16 great-great-great grandparents on her mother’s side, 9 are missing.

Paper trail being unfruitful, Elizabeth Warren, like so many, sought to validate her family story through DNA testing.

Elizabeth Warren’s DNA Results

Elizabeth Warren didn’t test with one of the major vendors. Instead, she went directly to a specialist. That’s the equivalent of skipping the family practice doctor and going to the Mayo Clinic.

Elizabeth Warren had test results interpreted by Dr. Carlos Bustamante at Stanford University. You can read the actual report here and I encourage you to do so.

From the report, here are Dr. Bustamante’s credentials:

Dr. Carlos D. Bustamante is an internationally recognized leader in the application of data science and genomics technology to problems in medicine, agriculture, and biology. He received his Ph.D. in Biology and MS in Statistics from Harvard University (2001), was on the faculty at Cornell University (2002-9), and was named a MacArthur Fellow in 2010. He is currently Professor of Biomedical Data Science, Genetics, and (by courtesy) Biology at Stanford University. Dr. Bustamante has a passion for building new academic units, non-profits, and companies to solve pressing scientific challenges. He is Founding Director of the Stanford Center for Computational, Evolutionary, and Human Genomics (CEHG) and Inaugural Chair of the Department of Biomedical Data Science. He is the Owner and President of CDB Consulting, LTD. and also a Director at Eden Roc Biotech, founder of Arc-Bio (formerly IdentifyGenomics and BigData Bio), and an SAB member of Imprimed, Etalon DX, and Digitalis Ventures among others.

He’s no lightweight in the study of Native American DNA. This 2012 paper, published in PLOS Genetics, Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas focused on teasing out Native American markers in admixed individuals.

From that paper:

Ancestry Informative Markers (AIMs) are commonly used to estimate overall admixture proportions efficiently and inexpensively. AIMs are polymorphisms that exhibit large allele frequency differences between populations and can be used to infer individuals’ geographic origins.

And:

Using a panel of AIMs distributed throughout the genome, it is possible to estimate the relative ancestral proportions in admixed individuals such as African Americans and Latin Americans, as well as to infer the time since the admixture process.

The methodology produced results of the type that we are used to seeing in terms of continental admixture, shown in the graphic below from the paper.

Matching test takers against the genetic locations that can be identified as either Native or African or European informs us that our own ancestors carried the DNA associated with that ethnicity.

Of course, the Native samples from this paper were focused south of the United States, but the process is the same regardless. The original Native American population of a few individuals arrived thousands of years ago in one or more groups from Asia and their descendants spread throughout both North and South America.

Elizabeth’s request, from the report:

To analyze genetic data from an individual of European descent and determine if there is reliable evidence of Native American and/or African ancestry. The identity of the sample donor, Elizabeth Warren, was not known to the analyst during the time the work was performed.

Elizabeth’s test included 764,958 genetic locations, of which 660,173 overlapped with locations used in ancestry analysis.

The Results section says after stating that Elizabeth’s DNA is primarily (95% or greater) European:

The analysis also identified 5 genetic segments as Native American in origin at high confidence, defined at the 99% posterior probability value. We performed several additional analyses to confirm the presence of Native American ancestry and to estimate the position of the ancestor in the individual’s pedigree.

The largest segment identified as having Native American ancestry is on chromosome 10. This segment is 13.4 centiMorgans in genetic length, and spans approximately 4,700,000 DNA bases. Based on a principal components analysis (Novembre et al., 2008), this segment is clearly distinct from segments of European ancestry (nominal p-value 7.4 x 10-7, corrected p-value of 2.6 x 10-4) and is strongly associated with Native American ancestry.

The total length of the 5 genetic segments identified as having Native American ancestry is 25.6 centiMorgans, and they span approximately 12,300,000 DNA bases. The average segment length is 5.8 centiMorgans. The total and average segment size suggest (via the method of moments) an unadmixed Native American ancestor in the pedigree at approximately 8 generations before the sample, although the actual number could be somewhat lower or higher (Gravel, 2012 and Huff et al., 2011).

Dr. Bustamante’s Conclusion:

While the vast majority of the individual’s ancestry is European, the results strongly support the existence of an unadmixed Native American ancestor in the individual’s pedigree, likely in the range of 6-10 generations ago.

I was very pleased to see that Dr. Bustamante had included the PCA (Principal Component Analysis) for Elizabeth’s sample as well.

PCA analysis is the scientific methodology utilized to group individuals to and within populations.

Figure one shows the section of chromosome 10 that showed the largest Native American haplotype, meaning DNA block, as compared to other populations.

Remember that since Elizabeth received a chromosome from BOTH parents, that she has two strands of DNA in that location.

Here’s our example again.

Given that Mom’s DNA is Native, and Dad’s is European in this example, the expected results when comparing this segment of DNA to other populations is that it would look half Native (Mom’s strand) and half European (Dad’s strand.)

The second graphic shows Elizabeth’s sample and where it falls in the comparison of First Nations (Canada) and Indigenous Mexican individuals. Given that Elizabeth’s Native ancestor would have been from the United States, her sample falls where expected, inbetween.

Let’s take a look at some of the questions being asked.

Questions and Answers

I’ve seen a lot of misconceptions and questions regarding these results. Let’s take them one by one:

Question – Can these results prove that Elizabeth is Cherokee?

Answer – No, there is no test, anyplace, from any lab or vendor, that can prove what tribe your ancestors were from. I wrote an article titled Finding Your American Indian Tribe Using DNA, but that process involves working with your matches, Y and mitochondrial DNA testing, and genealogy.

Q – Are these results absolutely positive?

A – The words “absolutely positive” are a difficult quantifier. Given the size of the largest segment, 13.4 cM, and that there are 5 Native segments totaling 25.6 cM, and that Dr. Bustamante’s lab performed the analysis – I’d say this is as close to “absolutely positive” as you can get without genealogical confirmation.

A 13.4 cM segment is a valid segment that phases to parents 98% of the time, according to Philip Gammon’s work, here, and 99% of the time in my own analysis here. That indicates that a 13.4 cM segment is very likely a legitimately ancestral segment, not a match by chance. The additional 4 segments simply increase the likelihood of a Native ancestor. In other words, for there NOT to be a Native ancestor, all 5 segments, including the large 13.4 cM segment would have to be misidentified by one of the premier scientists in the field.

Q – What did Dr. Bustamante mean by “evidence of an unadmixed Native American ancestor?”

A – Unadmixed means that the Native person was fully Native, meaning not admixed with European, Asian or African DNA. Admixture, in this context, means that the individual is a mixture of multiple ethnic groups. This is an important concept, because if you discover that your ancestor 4 generations ago was a Cherokee tribal member, but the reality was that they were only 25% Native, that means that the DNA was already in the process of being divided. If your 4^th generation ancestor was fully Native, you would receive about 6.25% of their DNA which would be all Native. If they were only 25% Native, that means that while you will still receive about 6.25% of their DNA but only one fourth of that 6.25% is possibly Native – so 1.56%. You could also receive NONE of their Native DNA.

Q – Is this the same test that the major companies use?

A – Yes and no. The test itself was probably performed on the same Illumina chip platform, because the chips available cover the markers that Bustamante needed for analysis.

The major companies use the same reference data bases, plus their own internal or private data bases in addition. They do not create PCA models for each tester. They do use the same methodology described by Dr. Bustamante in terms of AIMs, along with proprietary algorithms to further define the results. Vendors may also use additional internal tools.

Q – Did Dr. Bustamante use more than one methodology in his analysis? What if one was wrong?

A – Yes, he utilized two different methodologies whose results agreed. The global ancestry method evaluates each location independently of any surrounding genetic locations, ignoring any correlation or relationship to neighboring DNA. The second methodology, known as the local ancestry method looks at each location in combination with its neighbors, given that DNA pieces are known to travel together. This second methodology allows comparisons to entire segments in reference populations and is what allows the identification of complete ancestral segments that are identified as Native or any other population.

Q – If Elizabeth’s DNA results hadn’t shown Native heritage, would that have proven that she didn’t have Native ancestry?

A – No, not definitively, although that is a possible reason for ethnicity results not showing Native admixture. It would have meant that either she didn’t have a Native ancestor, the DNA washed out, or we cannot yet detect those segments.

Q – Does this qualify Elizabeth to join a tribe?

A – No. Every tribe defines their own criteria for membership. Some tribes embrace DNA testing for paternity issues, but none, to the best of my knowledge, accept or rely entirely on DNA results for membership. DNA results alone cannot identify a specific tribe. Tribes are societal constructs and Native people genetically are more alike than different, especially in areas where tribes lived nearby, fought and captured other tribe’s members.

Q – Why does Dr. Bustamante use words like “strong probability” instead of absolutes, such as the percentages shown by commercial DNA testing companies?

A – Dr. Bustamante’s comments accurately reflect the state of our knowledge today. The vendors attempt to make the results understandable and attractive for the general population. Most vendors, if you read their statements closely and look at your various options indicate that ethnicity is only an estimate, and some provide the ability to view your ethnicity estimate results at high, medium and low confidence levels.

Q – Can we tell, precisely, when Elizabeth had a Native ancestor?

A – No, that’s why Dr. Bustamante states that Elizabeth’s ancestor was approximately 8 generations ago, and in the range of 6-10 generations ago. This analysis is a result of combined factors, including the total centiMorgans of Native DNA, the number of separate reasonably large segments, the size of the longest segment, and the confidence score for each segment. Those factors together predict most likely when a fully Native ancestor was present in the tree. Keep in mind that if Elizabeth had more than one Native ancestor, that too could affect the time prediction.

Q – Does Dr. Bustamante provide this type of analysis or tools for the general public?

A – Unfortunately, no. Dr. Bustamante’s lab is a research facility only.

Roberta’s Summary of the Analysis

I find no omissions or questionable methods and I agree with Dr. Bustamante’s analysis. In other words, yes, I believe, based on these results, that Elizabeth had a Native ancestor further back in her tree.

I would love for every tester to be able to receive PCA results like this.

However, an ethnicity confirmation isn’t all that can be done with Elizabeth’s results. Additional tools and opportunities are available outside of an academic setting, at the vendors where we test, using matching and other tools we have access to as the consuming public.

We will look at those possibilities in a second article, because Elizabeth’s results are really just a beginning and scratch the surface. There’s more available, much more. It won’t change Elizabeth’s ethnicity results, but it could lead to positively identifying the Native ancestor, or at least the ancestral Native line.

Join me in my next article for Possibilities, Wringing the Most Out of Your DNA Ethnicity Test.

In the mean time, you might want to read my article, Native American DNA Resources.

______________________________________________________________

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DNA Painter – Touring the Chromosome Garden

Posted on June 18, 2018 by Roberta Estes

This is the third article in a series about DNA Painter. To know DNA Painter is to love DNA Painter! Trust me!

The first two articles are:

The Chromosome Sudoku article introduces you to DNA Painter, it’s purpose and how to use the tool. The Mining Vendor Data article illustrates exactly how to find the segments you can paint from each of the main autosomal testing vendors and GedMatch.

This article is a leisurely tour through my colorful chromosome garden so that, together, we can see examples of how to utilize the information that chromosome painting unveils.

Chromosome painting can do amazing things: walk you back generations, show visual phasing…and reveal that there’s a mistake someplace, too.

If you’re not willing to be wrong and reconsider, this might not be the field for you😊

Automatic Triangulation

Chromosome painting automatically mathematically triangulates your DNA and in a much easier way than the old spreadsheet method. In fact, triangulation just happens, effortlessly IF you can determine which side is maternal and which side is paternal. Of course, you’ll always want to check to be sure that your matches also match each other. if not, then that’s an indication that maybe one or both are identical by chance.

The definition of triangulation in this context means:

To find a common segment
Of reasonable size (generally 7cM or over)
That is confirmed to a common ancestor with at least two other individuals
Who are not close family

Close family generally means parents, siblings, sometimes grandparents, although parents and grandparents can certainly be used to verify that the match is valid. The best triangulation situation is when you match those two other people through a second child, meaning siblings of your ancestor.

Different matches, depending on the circumstances, have a different level of value to you as a genealogist. In other words, some are more solid than others.

The X chromosome has special matching and triangulation rules, so we’ll talk about that when we get to that section.

Don’t think of chromosome painting as “doing” triangulation, because triangulation is a bonus of chromosome painting, and it just happens, automatically, so long as you can confirm that the segment is from either your maternal or paternal line.

What does triangulation look like in DNA Painter?

Here’s what my painted chromosome 15 looks like.

Here, I’ve drawn boxes around the areas that are triangulated. Actually, I made a small mistake and omitted one grey bar that’s also part of a second triangulation group. Can you spot it? Hint – look at the grey bars at far right in the overlapping triangulation group boxes where the red arrow is pointing. The box below should extend upwards to incorporate part of that top grey bar too.

Triangulation are those several segments piled up on top of each other. It means they match you at the same address on either the maternal or paternal chromosome. That’s good, but it’s not the same as an official “pileup area.”

Ok, so what’s a pileup area?

Pileup Areas

Certain locations in the human genome have been designated as pileup regions based on the fact that many people will match on these segments, not necessarily because they share a common relatively recent ancestor, but instead because a particular segment has a very high frequency in the general human population, or in the population of a specific region. Translated, this means that the segment might not be relevant to genealogy.

But before going too far with this discussion, it doesn’t mean that matches in pileup regions aren’t relevant to genealogy – just consider it a caution sign.

Aside from chromosome 6, which includes the HLA region, I’ve always been rather suspicious of pileup regions, because they don’t seem to hold true for me. You can view a chart that I assembled of the known pileup regions here.

DNA Painter generously includes pileup region warnings, in essence, along a chromosome bar at the top indicating “shared” or “both.”

Please note that you can click to enlarge any image.

Pileups regions are indicated by the grey hashed region at right. In my case, on chromosome 1, the pileup region isn’t piled up at all, on either the paternal (blue) chromosome or the maternal (pink) chromosome.

As you can see, I have exactly one match on the maternal side (green) and one (gold) on the paternal side (with a smidgen of a second grey match) as well, with both extending significantly beyond the pileup region. There is no reason to suspect that these gold and green matches aren’t valid.

If I saw many more matches in a pileup region than elsewhere, or many small matches, or DNA that was supposed to be from multiple ancestors not in the same line, then I’d have to question whether a pileup region was responsible.

Stacked Segments

DNA Painter provides you with the opportunity to see which of your ancestors’ segments stack. Stacking is a very important concept of DNA painting.

Before we talk about stacking, notice that the legend for which segments are color coded to specific ancestors is located at right. You can also click on the little grey box beside “Shared or Both,” at left, to show the match names beside the segments. This is very useful when trying to analyze the accuracy of the match.

I wish DNA Painter offered an option to paint the ancestor’s names beside the segments. Maybe in V2. It’s really difficult to complain about anything because this tool is both free and awesome.

I’m using Powerpoint to label this group of stacked matches for this example.

This is a situation where I know my pedigree chart really well, so I know immediately upon looking at this stacked segment group who this piece of DNA descends from.

Here’s my pedigree chart that corresponds to the stacked segment.

We attribute each DNA segment to a couple initially based on who we match. In this case, that’s William George Estes and Ollie Bolton, my grandparents. The DNA remains attributed to them until we have evidence of which individual person in the couple received that DNA from their ancestors and passed it on to their descendant.

Therefore, the pink people are the half of the couple who we now know (thanks to DNA Painter) did NOT contribute that DNA segment, because we can track the DNA directly through the yellow line until we’re once again to another genetic brick wall couple.

My father is listed at left, and the DNA path runs back to William Crumley the second and his unknown wife who is haplogroup H2a1, the yellow couple at far right. How cool is this? One of those ancestors (or a combined segment from both) has been passed intact to me today. This is not a trivial segment either at 23.3 cM. I would not expect a segment passed to 5^th cousins to be that large, but it is!

Also, note that the grey segment of DNA from Lazarus Estes (1848-1918) and Elizabeth Vannoy (1847-1918) is sitting slightly to the left of the dark blue segment from William Crumley III, so part or all of the grey or blue segment may originate with a different ancestor. Perhaps we’ll know more when additional people test and match on this same segment.

Double Related

I have one person who is related to me through two different lines. I need a way to determine which line (or both) our common DNA segment descends from.

I painted the segment for both of our common ancestor couples. The pink is George Dodson (1702-1770) & Margaret Dagord. The bright blue segment is William Crumley III (1788-1859) & Lydia Brown.

Those two lines don’t converge, at least not that we know of.

Now, as I map additional people, I’ll watch this segment for a tie breaker match between the two ancestors. The gold is not a tie breaker because that’s my grandparents who are downstream of both the pink and blue ancestors.

Painted Ethnicity

23andMe does us the favor of painting our ethnicity segments and allowing us to download a file with those segments. Conversely, DNA Painter does us the favor of allowing us to paint that entire file at once.

I already know my two Native segments on chromosome 1 and 2 descend through my mother, because her DNA is Native in exactly the same location. In other words, in this case, my ethnicity segment does in fact phase to my mother, although that’s not always the case with ethnicity.

Multiple Acadian ancestors are also proven to be Native by both genealogical records and maternal and/or paternal haplogroups.

Therefore, I’ve painted my Native segments on my mother’s side in order to determine exactly from which ancestor(s) those Native segment descend.

Confirming Questionable Ancestors

One very long-standing mystery that seemed almost unsolvable was the identity of the parents of Elijah Vannoy (1784->1850). We know he was the son of one of 4 Vannoy brothers living in Wilkes County, NC. Two were eliminated by existing Bibles and other records, but the other two remained candidates in spite of sifting through every available record and resource. We were out of luck unless DNA came to the rescue. Y DNA confirmed that Elijah was descended from one of the Vannoy males, but didn’t shed light on which one.

I decided that the wives would be the key, since we knew the identity of all four wives, thankfully. Of course, that means we’d be using autosomal DNA to attempt to gather more information.

I entered one candidate couple at Ancestry as Elijah’s parents – the one I felt most likely based on tax records and other criteria – Daniel Vannoy and Sarah Hickerson. I also entered Sarah’s parents, Charles Hickerson (c 1725-<1793) and Mary Lytle.

I began getting matches to people who descend from Charles Hickerson and Mary Lytle through children other than Sarah.

The grey segment is from a descendant of Lazarus Estes & Elizabeth Vannoy. The salmon segments are from descendants of Charles Hickerson and Mary Lytle.

These segments aren’t small, 12.8 and 16.1 cM, so I’m fairly confident that these multiple segments in combination with the Elizabeth Vannoy segment do indeed descend from Charles Hickerson and Mary Lytle.

At Ancestry, I have 5 matches to Charles Hickerson and Mary Lytle through three of their children. However, only two of the individuals has transferred their results to either Family Tree DNA, MyHeritage or GedMatch where segment information is available to customers.

Finally, the thirty year old mystery is solved!

Shifting, Sliding, Offset or Staggered Segment Groups

Occasionally, you can prove an entire large segment by groups of shifting or sliding segments, sometimes referred as offset or staggered segments.

The entire bright pink region is inherited from Jacob Lentz (1783-1870) and Fredericka Reuhl (1788-1863.) However, it’s not proven by one individual but by a combination of 6 people whose segments don’t all overlap with each other. The top two do match very closely with me and each other, then the third spans the two groups. The bottom 3 and part of the middle segment match very closely as well.

I can conclude that the entire dark pink region from left to right descends from Jacob and Fredericka.

Two Matches – 7 Generations

Two matches is all it took to identify this segment back to George Dodson and Margaret Dagord.

The mustard match is to my grandparents (22cM), and the pink match is to George Dodson (1702-1770) and his wife (22cM) – 7 generations. These people also match each other.

Additional matches would make this evidence stronger, although a 22cM triangulated match is very significant alone. Future might also suggest ancestors further back in time.

First Chromosome Fully Mapped

I actually have chromosome 5 entirely mapped to confirmed ancestors. I’m so excited.

Uh Oh – Something’s Wrong

I found a stack that clearly indicates something is wrong. The question is, what?

The mustard represents my paternal grandparents, so these segments could have come through either of them, although on the pedigree chart below, we can see that this came through my grandfathers line..

There is only a small overlap with the magenta (Nicholas Speak 1782-1852 and Sarah Faires 1786-1865) and green (James Crumley 1711-1764 and Catherine c1712-c1790,) which could be by chance given that the Nicholas segment is 7.5 cM, so I’m leaving the magenta out of the analysis.

However, the rest of these segments overlap each other significantly, even though they are stepped or staggered.

As you can see from the colors on the pedigree chat, it’s impossible for the green segment to descend from the same ancestor as the purple segment. The purple and orange confirm that branch of the tree, but the red cannot be from the same ancestor or the same line as the green ancestor.

I suspect that the purple and orange line is correct, because there are 4 segments from different people with the same ancestral line.

This means that we have one of the following situations with the red and green segments:

The smaller segments are incorrect, false positives, meaning matching by chance. The green segment is 14 cM, so quite large to match by chance. The red segment is 10 cM. Possible, but not probable.
The segments are population-based matches, so appear in all 3 lines. Possible, technically, but also not probable due to the segment size.
The segments are genuine matches, and one of the lines is also found in one of the other lines, upstream. This is possible, but this would have to be the case with both the red and green lines. To continue to weigh this possibility, I’ll be watching for similar situations with these same ancestors.
Some combination of the above.

I need more matches on this segment for further clarity.

Visual Phasing – Crossovers

A crossover point is where the DNA on one side of a demarcation line is descended from one ancestor and the DNA on the other side is descended from another ancestor, represented by the pink and blue halves of the segment, below.

Crossovers occur when the DNA is combined from two different ancestors when it is passed to the child. In other words, a chunk of mom’s ancestors’ DNA is contributed by mom and a chunk of dad’s ancestors’ DNA is contributed as well. The seam between different ancestor’s DNA pieces is called a crossover.

In this example, the brown lines confirmed by several testers to be from Henry Bolton (c1759-1846) and Nancy Mann (c1780-1841) is shown with a very specific left starting point, all in a vertical line. It looks for all the world like this is a crossover point. The DNA to the left would have been contributed by another, as yet unidentified, ancestor.

The gold lines above are matches from more recent generations.

Naming Those Unnamed Acadians

My Acadian ancestry is hopelessly intertwined, but chromosome painting may in fact provide me with some prayer of unraveling this ball of twine. Eventually.

When I know that someone is Acadian, but I can’t tell which of many lines I connect through, I add them as “Acadian Undetermined.”

There’s a lot of Acadian DNA, because it’s an endogamous population and they just keep passing the same segments around and around in a very limited population.

On my maternal chromosome, all of the olive green is “Acadian Undetermined.” However, that blue segment in the stack is Rene de Forest (1670-1751) and Francoise Dugas (1678->1751).

In essence, this one match identified all of the DNA of the other people who are now simply a row in the Acadian Undetermined stack. Now I need to go back and peruse the trees of these individuals to determine if they descend form this line, or a common ancestor of this line, or if (some of) these matches are a matter of endogamy.

Endogamous matches can be population based, meaning that you do match each other, but it’s because you share so much of the same DNA because you have small pieces of many common ancestors – not because a particular segment comes from one specific ancestor. You can also share part of your DNA from Mom’s side and part from Dad’s side, because both of your parents descend from a common population and not because the entire segment comes from any particular ancestor.

On some long cold winter weekend, I’ll go through and map all of the trees of my Acadian matches to see what I can unravel. I just love matches with trees. You just can’t do something like this otherwise.

Of course, those Acadians (and other endogamous populations) can be tricky, no matter what, one click up from a needle in a haystack.

Acadian Endogamy Haystack on Steroids

At first, our haystack looks like we’ve solved the mystery of the identity of the stack. However, we soon discover that maybe things aren’t as neat and tidy as we think.

Of course, the olive green is Acadian Undetermined, but the three other colored segments are:

Pink – Guillaume Blanchard (1650-1715/17) & Huguette Goujon (c1647-1717)
Brown/Pink – Francois Broussard (c1653-1716) & Catherine Richard (c1663-1748)
Coffee – Daniel Garceau (1707-1772) & Anne Doucet (1713-1791)

Looking at the pedigree chart, we find two of these couples in the same lineage, so all is good, until we find the third, pink, couple, at the bottom.

Clearly, this segment can’t be in two different lines at once, so we have a problem. Or do we?

Working the pink troublesome lines on back, we make a discovery.

We find a Blanchard line consisting of Guilluame Blanchard born circa 1590 and Huguette Poirier also born circa 1690.

Interesting. Let’s compare the Guillaume Blanchard and Huguette Goujon line. Is this the same couple, but with a different surname for her?

No, as it turns out, Guillaume Blanchard that married Huguette Goujon was the grandson of Guilluame Blanchard and Huguette Poirier. That haystack segment of DNA was passed down through two different lines, it appears, to converge in three descendants – me, the descendant of the pink segment couple and the descendant of the brown/burgundy segment couple. This segment reaches back in time to the birth of either Guilluame Blanchard or Huguette Poirier in 1590, someplace in France, rode over on the ship to Port Royal in the very early 1600s, probably before Jamestown was settled, and has been kicking around in my ancestors and their descendants ever since.

This 18 or so cM ancestral segment is buried someplace at Port Royal, Nova Scotia, but lives on in me and several other people through at least two divergent lines.

The X Chromsome

Several vendors don’t report the X chromosome segments. I do use X segments from those who do, but I utilize a different threshold because the SNP density is about half of that on the other chromosomes. In essence, you need a match twice as large to be equivalent to a match on another chromosome..

Generally, I don’t rely on segments below 10 for anyone, and I generally only use segments over 14cM and no less than 500 SNPs.

Having just said that, I have painted a few smaller segments, because I know that if they are inaccurate, they are very easy to delete. They can remain in speculative mode. The default for DNAPainter and that’s what I use.

The great thing about the X chromosome is that because of it’s special inheritance path, you can sometimes push these segments another 2 generations back in time.

Let’s use an X chromosome match in conjunction with my X fan chart printed through Charting Companion.

On the paternal X, I inherited the gold segment from the couple, William George Estes (1873-1971) & Ollie Bolton (1874-1955.) However, since my father didn’t inherit an X from William George Estes (because my father inherited the Y from his father,) that X segment has to be from Ollie Bolton, and therefore from her parents Joseph Bolton (1853-1920) and Margaret Claxton (1851-1920.)

The segment from Lazarus Estes (1848-1918) and Elizabeth Vannoy (1847-1918) that’s 14 cM is false. It can’t descend from that couple. Same for the 7.5 cM from Jotham Brown (c1740-c1799) & Phoebe unk (c1747-c1803.) That segment’s false too. The green 48 cM segment from Samuel Claxton (1827-1876) and Elizabeth Speak (1832-1907)? That segment’s good to go!

On my mother’s side, there’s a 7.8 cM Acadian Undetermined, which must be false, because Curtis Benjamin Lore (1856-1909) did not inherit an X chromosome from his Acadian father, Antoine Lore (1805-1862/67.) Therefore, my X chromosome has no Acadian at all. I never realized that before, and it makes my X chromosome MUCH easier.

How about that light green 33cM segment from Antoine Lore (1805-1862/67) & Rachel Hill (1814/15-1870/80)? That segment must come from Rachel Hill, so it’s pushed back another generation to Joseph Hill (1790-1871) and Nabby Hall (1792-1874.)

I love the X chromosome because when you find a male in the line, you automatically get bumped two more generations back to his mother’s parents. It’s like the X prize for genetic genealogy, pardon the pun!

Adoptees

Some adoptees are lucky and receive close matches immediately. Others, not so much and the search is a long process.

If you’re an adoptee trying to figure out how your matches connect together, use in-common-match groupings to cluster matches together, then paint them in groups. Utilize the overlapping segments in order to view their trees, looking for common surnames. Always start with the groups with the longest segments and the most matches. The larger the match, the more likely you are to be able to find a connection in a more recent generation. The more matches, the more likely you are to be able to spot a common surname (or two.)

Painting can speed this process significantly.

Much More Than Painting

I hope this tour through my colorful chromosomes has illustrated how much fun analysis can be. You’ll have so much fun that you won’t even realize you’re triangulating, phasing and all of those other difficult words.

If you have something you absolutely have to do, set an alarm – or you’ll forget all about it. Voice of experience here!

So, go and find some segments to paint so all of these exciting things can happen to you too!

How far back will you be able to identity a segment to a specific ancestor? How about a triangulated segment? An X segment?

Have fun!!! Don’t forget to eat!

______________________________________________________________

Disclosure

Thank you so much.

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Who Tests the X Chromosome?

Posted on February 7, 2018 by Roberta Estes

Recently, someone asked which of the major DNA testing companies test the X chromosome and which ones use the X in matching. How does this difference influence the quality of our matches?

Vendor	X in Download File	Uses X in Matching	X Included in Total cM Count
23andMe	Yes	Yes	Yes
Family Tree DNA	Yes	Yes (if have a match on another chromosome)	No
Ancestry	Yes	*No	No
MyHeritage	Yes	No	No
GedMatch	N/A	Separately	No

*If Ancestry did utilize the X in matching, it wouldn’t benefit customers because Ancestry does not show segment information by chromosome. In other words, no chromosome browser.

Family Tree DNA includes any size X match IF and only if the two people already match on a different chromosome.

GedMatch, of course, isn’t a vendor who does DNA testing, so they don’t provide download files. They are solely on the receiving end.

X CentiMorgan Counts

Due to variations in the way vendors calculate matches and total cM counts, your mileage may vary a bit.

In other words, the 23andMe cM total, if an X match is involved, may be slightly more than a match between the same two people at Family Tree DNA, where the X match cM is not included in the cM total.

Conversely, you won’t show an X match with someone at Family Tree DNA if there isn’t also another segment on a different chromosome that matches.

In general, due to the thin spread of SNPs on the X chromosome, you will need, on average, a cM match that is twice as large as on other chromosomes to be considered of equal weight.

In other words, a 10 cM match on the X chromosome would only be genealogically equivalent to approximately a 5 cM match on any other chromosome.

X matches really can’t be evaluated by the same rules as other chromosomes due both to their SNP paucity and their inheritance path, which is why most vendors don’t include those segments in the total cM count.

X Matches

While including the X chromosome cM count is problematic, X matching can be a huge benefit because of the unique inheritance path of the X chromosome.

In the article, X Marks the Spot, we discussed the inheritance path of the X chromosome for both males and females. Females inherit an X chromosome from both father and mother, which recombines just like chromosomes 1-22. However, men only inherit an X from their mother, because they inherit a Y from their father instead of the X. Therefore, males will only inherit an X from their mother, and females will only inherit their father’s mother’s X chromosome.

Charting Companion software works with your genealogy software of choice to produce a lovely fan chart where the contributors of my X chromosome are charted in color, above. You can read more about Charting Companion here.

The great news is that if you and a match share a significant portion of the X chromosome, meaning more than 15 cM which reduces the likelihood of an identical by chance match, the common ancestor (on that segment) has to come from an ancestor in your direct X path.

I’m always excited to see with whom I share an X. That piece of information alone helps me focus my ancestor detective efforts on a specific portion of my tree.

Some X segments can remain intact for generations and may be very old. So don’t be surprised if the common ancestor of the X segment and another matching segment may not be the same ancestor.

Sorting by X

I wasn’t able to find a way to sort by X chromosome matches at 23andMe, but you can sort by the X at both Family Tree DNA and GedMatch.

At GedMatch, X matching shows on the one-to-many match page. You can sort by either Total X cM or Largest X cM by using the up and down arrows, at right, below, in the X DNA columns.

After you identify an X match, be sure to run the X one-to-one match option to verify.

My GedMatch matches cause me to wonder if 23andMe is using a different reporting threshold for the X chromosome, because one of my matches at GedMatch is a close family member with no X match at 23andMe, but a total of 32 X cM and with a longest segment of 14 X cM at GedMatch.

That same individual matches me with the largest X segment of 14 cM at Family Tree DNA as well.

Family Tree DNA X Match Phasing

At Family Tree DNA, on your Family Finder matches page, just click on the X-Match header (at right, below) to bring all of your X matches to the top of your list.

If you have linked any kits of relatives to your tree, you will see numbers of phased kits on the maternal and paternal tabs with the red and blue male and female icons. In the example above, I have 3313 matches total, with 744 being paternal, 586 being maternal.

Next, click on the maternal or paternal tab to see only the people with X matches who match you on the your maternal and paternal lines. Matches are automatically sorted into maternal and paternal “buckets” for you. Remember to check the size of the X match before deciding about relevance.

Who is your largest X match that you don’t already know? Maybe you can find your common ancestor today.

Have fun!!!

______________________________________________________________

Disclosure

Thank you so much.

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Genealogy Services

Genealogy Research

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Which DNA Test is Best?

Posted on April 24, 2017 by Roberta Estes

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If you’re reading this article, congratulations. You’re a savvy shopper and you’re doing some research before purchasing a DNA test. You’ve come to the right place.

The most common question I receive is asking which test is best to purchase. There is no one single best answer for everyone – it depends on your testing goals and your pocketbook.

Testing Goals

People who want to have their DNA tested have a goal in mind and seek results to utilize for their particular purpose. Today, in the Direct to Consumer (DTC) DNA market space, people have varied interests that fall into the general categories of genealogy and medical/health.

I’ve approached the question of “which test is best” by providing information grouped into testing goal categories. I’ve compared the different vendors and tests from the perspective of someone who is looking to test for those purposes – and I’ve created separate sections of this article for each interest..

We will be discussing testing for:

Ethnicity – Who Am I? – Breakdown by Various World Regions
Adoption – Finding Missing Parents or Close Family
Genealogy – Cousin Matching and Ancestor Search/Verification
Medical/Health

We will be reviewing the following test types:

Autosomal
Y DNA (males only)
Mitochondrial DNA

I have included summary charts for each section, plus an additional chart for:

Additional Vendor Considerations

If you are looking to select one test, or have limited funds, or are looking to prioritize certain types of tests, you’ll want to read about each vendor, each type of test, and each testing goal category.

Each category reports information about the vendors and their products from a different perspective – and only you can decide which of these perspectives and features are most important to you.

You might want to read this short article for a quick overview of the 4 kinds of DNA used for genetic genealogy and DTC testing and how they differ.

The Big 3

Today, there are three major players in the DNA testing market, not in any particular order:

23andMe
Ancestry
Family Tree DNA

Each of these companies offers autosomal tests, but each vendor offers features that are unique. Family Tree DNA and 23andMe offer additional tests as well.

In addition to the Big 3, there are a couple of new kids on the block that I will mention where appropriate. There are also niche players for the more advanced genetic genealogist or serious researcher, and this article does not address advanced research.

In a nutshell, if you are serious genealogist, you will want to take all of the following tests to maximize your tools for solving genealogical puzzles. There is no one single test that does everything.

Full mitochondrial sequence that informs you about your matrilineal line (only) at Family Tree DNA. This test currently costs $199.
Y DNA test (for males only) that informs you about your direct paternal (surname) line (only) at Family Tree DNA. This test begins at $169 for 37 markers.
Family Finder, an autosomal test that provides ethnicity estimates and cousin matching at Family Tree DNA. This test currently costs $89.
AncestryDNA, an autosomal test at Ancestry.com that provides ethnicity estimates and cousin matching. (Do not confuse this test with Ancestry by DNA, which is not the same test and does not provide the same features.) This test currently costs $99, plus the additional cost of a subscription for full feature access. You can test without a subscription, but nonsubscribers can’t access all of the test result features provided to Ancestry subscribers.
23andMe Ancestry Service test, an autosomal test that provides ethnicity estimates and cousin matching. The genealogy version of this test costs $99, the medical+genealogy version costs $199.

A Word About Third Party Tools

A number of third party tools exist, such as GedMatch and DNAGedcom.com, and while these tools are quite useful after testing, these vendors don’t provide tests. In order to use these sites, you must first take an autosomal DNA test from a testing vendor. This article focuses on selecting your DNA testing vendor based on your testing goals.

Let’s get started!

Ethnicity

Many people are drawn to DNA testing through commercials that promise to ‘tell you who you are.” While the allure is exciting, the reality is somewhat different.

Each of the major three vendors provide an ethnicity estimate based on your autosomal DNA test, and each of the three vendors will provide you with a different result.

Yep, same person, different ethnicity breakdowns.

Hopefully, the outcomes will be very similar, but that’s certainly not always the case. However, many people take one test and believe those results wholeheartedly. Please don’t. You may want to read Concepts – Calculating Ethnicity Percentages to see how varied my own ethnicity reports are at various vendors as compared to my known genealogy.

The technology for understanding “ethnicity” from a genetic perspective is still very new. Your ethnicity estimate is based on reference populations from around the world – today. People and populations move, and have moved, for hundreds, thousands and tens of thousands of years. Written history only reaches back a fraction of that time, so the estimates provided to people today are not exact.

That isn’t to criticize any individual vendor. View each vendor’s results not as gospel, but as their opinion based on their reference populations and their internal proprietary algorithm of utilizing those reference populations to produce your ethnicity results.

To read more about how ethnicity testing works, and why your results may vary between vendors or not be what you expected, click here.

I don’t want to discourage anyone from testing, only to be sure consumers understand the context of what they will be receiving. Generally speaking, these results are accurate at the continental level, and less accurate within continents, such as European regional breakdowns.

All three testing companies provide additional features or tools, in addition to your ethnicity estimates, that are relevant to ethnicity or population groups.

Let’s look at each company separately.

Ethnicity – Family Tree DNA

Family Tree DNA’s ethnicity tool is called myOrigins and provides three features or tools in addition to the actual ethnicity estimate and associated ethnicity map.

Please note that throughout this article you can click on any image to enlarge.

On the myOrigins ethnicity map page, above, your ethnicity percentages and map are shown, along with two additional features.

The Shared Origins box to the left shows the matching ethnic components of people on your DNA match list. This is particularly useful if you are trying to discover, for example, where a particular minority admixture comes from in your lineage. You can select different match types, for example, immediate relatives or X chromosome matches, which have special inheritance qualities.

Clicking on the apricot (mitochondrial DNA) and green (Y DNA) pins in the lower right corner drops the pins in the locations on your map of the most distant ancestral Y and mitochondrial DNA locations of the individuals in the group you have selected in the Shared Origins match box. You may or may not match these individuals on the Y or mtDNA lines, but families tend to migrate in groups, so match hints of any kind are important.

A third unique feature provided by Family Tree DNA is Ancient Origins, a tool released with little fanfare in November 2016.

Ancient Origins shows the ancient source of your European DNA, based on genome sequencing of ancient DNA from the locations shown on the map.

Additionally, Family Tree DNA hosts an Ancient DNA project where they have facilitated the upload of the ancient genomes so that customers today can determine if they match these ancient individuals.

Kits included in the Ancient DNA project are shown in the chart below, along with their age and burial location. Some have matches today, and some of these samples are included on the Ancient Origins map.

Individual	Approx. Age	Burial Location	Matches	Ancient Origins Map
Clovis Anzick	12,500	Montana (US)	Yes	No
Linearbandkeramik	7,500	Stuttgart, Germany	Yes	Yes
Loschbour	8,000	Luxembourg	Yes	Yes
Palaeo-Eskimo	4,000	Greenland	No	No
Altai Neanderthal	50,000	Altai	No	No
Denisova	30,000	Siberia	No	No
Hinxton-4	2,000	Cambridgeshire, UK	No	No
BR2	3,200	Hungary	Yes	Yes
Ust’-Ishim	45,000	Siberia	Yes	No
NE1	7,500	Hungary	Yes	Yes

Ethnicity – Ancestry

In addition to your ethnicity estimate, Ancestry also provides a feature called Genetic Communities.

Your ethnicity estimate provides percentages of DNA found in regions shown on the map by fully colored shapes – green in Europe in the example above. Genetic Communities show how your DNA clusters with other people in specific regions of the world – shown with dotted clusters in the US in this example.

In my case, my ethnicity at Ancestry shows my European roots, illustrated by the green highlighted areas, and my two Genetic Communities are shown by yellow and red dotted regions in the United States.

My assigned Genetic Communities indicate that my DNA clusters with other people whose ancestors lived in two regions; The Lower Midwest and Virginia as well as the Alleghenies and Northeast Indiana.

Testers can then view their DNA matches within that community, as well as a group of surnames common within that community.

The Genetic Communities provided for me are accurate, but don’t expect all of your genealogical regions to be represented in Genetic Communities. For example, my DNA is 25% German, and I don’t have any German communities today, although ancestry will be adding new Genetic Communities as new clusters are formed.

You can read more about Genetic Communities here and here.

Ethnicity – 23andMe

In addition to ethnicity percentage estimates, called Ancestry Composition, 23andMe offers the ability to compare your Ancestry Composition against that of your parent to see which portions of your ethnicity you inherited from each parent, although there are problems with this tool incorrectly assigning parental segments.

Additionally, 23andMe paints your chromosome segments with your ethnic heritage, as shown below.

You can see that my yellow Native American segments appear on chromosomes 1 and 2.

In January 2017, 23andMe introduced their Ancestry Timeline, which I find to be extremely misleading and inaccurate. On my timeline, shown below, they estimate that my most recent British and Irish ancestor was found in my tree between 1900 and 1930 while in reality my most recent British/Irish individual found in my tree was born in England in 1759.

I do not view 23andMe’s Ancestry Timeline as a benefit to the genealogist, having found that it causes people to draw very misleading conclusions, even to the point of questioning their parentage based on the results. I wrote about their Ancestry Timeline here.

Ethnicity Summary

All three vendors provide both ethnicity percentage estimates and maps. All three vendors provide additional tools and features relevant to ethnicity. Vendors also provide matching to other people which may or may not be of interest to people who test only for ethnicity. “Who you are” only begins with ethnicity estimates.

DNA test costs are similar, although the Family Tree DNA test is less at $89. All three vendors have sales from time to time.

Ethnicity Vendor Summary Chart

Ethnicity testing is an autosomal DNA test and is available for both males and females.

	Family Tree DNA	Ancestry	23andMe
Ethnicity Test	Included with $89 Family Finder test	Included with $99 Ancestry DNA test	Included with $99 Ancestry Service
Percentages and Maps	Yes	Yes	Yes
Shared Ethnicity with Matches	Yes	No	Yes
Additional Feature	Y and mtDNA mapping of ethnicity matches	Genetic Communities	Ethnicity phasing against parent (has issues)
Additional Feature	Ancient Origins		Ethnicity mapping by chromosome
Additional Feature	Ancient DNA Project		Ancestry Timeline

Adoption and Parental Identity

DNA testing is extremely popular among adoptees and others in search of missing parents and grandparents.

The techniques used for adoption and parental search are somewhat different than those used for more traditional genealogy, although non-adoptees may wish to continue to read this section because many of the features that are important to adoptees are important to other testers as well.

Adoptees often utilize autosomal DNA somewhat differently than traditional genealogists by using a technique called mirror trees. In essence, the adoptee utilizes the trees posted online of their closest DNA matches to search for common family lines within those trees. The common family lines will eventually lead to the individuals within those common trees that are candidates to be the parents of the searcher.

Here’s a simplified hypothetical example of my tree and a first cousin adoptee match.

The adoptee matches me at a first cousin level, meaning that we share at least one common grandparent – but which one? Looking at other people the adoptee matches, or the adoptee and I both match, we find Edith Lore (or her ancestors) in the tree of multiple matches. Since Edith Lore is my grandmother, the adoptee is predicted to be my first cousin, and Edith Lore’s ancestors appear in the trees of our common matches – that tells us that Edith Lore is also the (probable) grandmother of the adoptee.

Looking at the possibilities for how Edith Lore can fit into the tree of me and the adoptee, as first cousins, we fine the following scenario.

Testing the known child of daughter Ferverda will then provide confirmation of this relationship if the known child proves to be a half sibling to the adoptee.

Therefore, close matches, the ability to contact matches and trees are very important to adoptees. I recommend that adoptees make contact with www.dnaadoption.com. The volunteers there specialize in adoptions and adoptees, provide search angels to help people and classes to teach adoptees how to utilize the techniques unique to adoption search such as building mirror trees.

For adoptees, the first rule is to test with all 3 major vendors plus MyHeritage. Family Tree DNA allows you to test with both 23andMe and Ancestry and subsequently transfer your results to Family Tree DNA, but I would strongly suggest adoptees test on the Family Tree DNA platform instead. Your match results from transferring to Family Tree DNA from other companies, except for MyHeritage, will be fewer and less reliable because both 23andMe and Ancestry utilize different chip technology.

For most genealogists, MyHeritage is not a player, as they have only recently entered the testing arena, have a very small data base, no tools and are having matching issues. I recently wrote about MyHeritage here. However, adoptees may want to test with MyHeritage, or upload your results to MyHeritage if you tested with Family Tree DNA, because your important puzzle-solving match just might have tested there and no place else. You can read about transfer kit compatibility and who accepts which vendors’ tests here.

Adoptees can benefit from ethnicity estimates at the continental level, meaning that regional (within continent) or minority ethnicity should be taken with a very large grain of salt. However, knowing that you have 25% Jewish heritage, for example, can be a very big clue to an adoptee’s search.

Another aspect of the adoptees search that can be relevant is the number of foreign testers. For many years, neither 23andMe, nor Ancestry tested substantially (or at all) outside the US. Family Tree DNA has always tested internationally and has a very strong Jewish data base component.

Not all vendors report X chromosome matches. The X chromosome is important to genetic genealogy, because it has a unique inheritance path. Men don’t inherit an X chromosome from their fathers. Therefore, if you match someone on the X chromosome, you know the relationship, for a male, must be from their mother’s side. For a female, the relationship must be from the mother or the father’s mother’s side. You can read more about X chromosome matching here.

Neither Ancestry nor MyHeritage have chromosome browsers which allow you to view the segments of DNA on which you match other individuals, which includes the X chromosome.

Adoptee Y and Mitochondrial Testing

In addition to autosomal DNA testing, adoptees will want to test their Y DNA (males only) and mitochondrial DNA.

These tests are different from autosomal DNA which tests the DNA you receive from all of your ancestors. Y and mitochondrial DNA focus on only one specific line, respectively. Y DNA is inherited by men from their fathers and the Y chromosome is passed from father to son from time immemorial. Therefore, testing the Y chromosome provides us with the ability to match to current people as well as to use the Y chromosome as a tool to look far back in time. Adoptees tend to be most interested in matching current people, at least initially.

Working with male adoptees, I have a found that about 30% of the time a male will match strongly to a particular surname, especially at higher marker levels. That isn’t always true, but adoptees will never know if they don’t test. An adoptee’s match list is shown at 111 markers, below.

Furthermore, utilizing the Y and mitochondrial DNA test in conjunction with autosomal DNA matching at Family Tree DNA helps narrows possible relatives. The Advanced Matching feature allows you to see who you match on both the Y (or mitochondrial) DNA lines AND the autosomal test, in combination.

Mitochondrial DNA tests the matrilineal line only, as women pass their mitochondrial DNA to all of their children, but only females pass it on. Family Tree DNA provides matching and advanced combination matching/searching for mitochondrial DNA as well as Y DNA. Both genders of children carry their mother’s mitochondrial DNA. Unfortunately, mitochondrial DNA is more difficult to work with because of the surname changes in each generation, but you cannot be descended from a woman, or her direct matrilineal ancestors if you don’t substantially match her mitochondrial DNA.

Some vendors state that you receive mitochondrial DNA with your autosomal results, which is only partly accurate. At 23andMe, you receive a haplogroup but no detailed results and no matching. 23andMe does not test the entire mitochondria and therefore cannot provide either advanced haplogroup placement nor Y or mitochondrial DNA matching between testers.

For additional details on the Y and Mitochondrial DNA tests themselves and what you receive, please see the Genealogy – Y and Mitochondrial DNA section.

Adoption Summary

Adoptees should test with all 4 vendors plus Y and mitochondrial DNA testing.

Ancestry – due to their extensive data base size and trees
Family Tree DNA – due to their advanced tools, chromosome browser, Y and mitochondrial DNA tests (Ancestry and 23andMe participants can transfer autosomal raw data files and see matches for free, but advanced tools require either an unlock fee or a test on the Family Tree DNA platform)
23andMe – no trees and many people don’t participate in sharing genetic information
MyHeritage – new kid on the block, working through what is hoped are startup issues
All adoptees should take the full mitochondrial sequence test.
Male adoptees should take the 111 marker Y DNA test, although you can start with 37 or 67 markers and upgrade later.
Y and mitochondrial tests are only available at Family Tree DNA.

Adoptee Vendor Feature Summary Chart

	Family Tree DNA	Ancestry	23andMe	MyHeritage
Autosomal DNA – Males and Females
Matching	Yes	Yes	Yes	Yes – problems
Relationship Estimates*	Yes – May be too close	Yes – May be too distant	Yes – Matches may not be sharing	Yes – problematic
International Reach	Very strong	Not strong but growing	Not strong	Small but subscriber base is European focused
Trees	Yes	Yes	No	Yes
Tree Quantity	54% have trees, 46% no tree (of my first 100 matches)	56% have trees, 44% no tree or private (of my first 100 matches)	No trees	~50% don’t have trees or are private (cannot discern private tree without clicking on every tree)
Data Base Size	Large	Largest	Large – but not all opt in to matching	Very small
My # of Matches on 4-23-2017	2,421	23,750	1,809 but only 1,114 are sharing	75
Subscription Required	No	No for partial, Yes for full functionality including access to matches’ trees, minimal subscription for $49 by calling Ancestry	No	No for partial, Yes for full functionality
Other Relevant Tools		New Ancestor Discoveries
Autosomal DNA Issues	Many testers don’t have trees	Many testers don’t have trees	Matching opt-in is problematic, no trees at all	Matching issues, small data base size is problematic, many testers don’t have trees
Contact Methodology	E-mail address provided to matches	Internal message system – known delivery issues	Internal message system	Internal message system
X Chromosome Matching	Yes	No	Yes	No
Y-DNA – Males Only
Y DNA STR Test	Yes- 37, 67, and 111 markers	No	No	No
Y Haplogroup	Yes as part of STR test plus additional testing available	No	Yes, basic level but no additional testing available, outdated haplogroups	No
Y Matching	Yes	No	No	No
Advanced Matching Between Y and Autosomal	Yes	No	No	No
Mitochondrial DNA- Males and Females
Test	Yes, partial and full sequence	No	No	No
Mitochondrial DNA Haplogroup	Yes, included in test	No	Yes, basic but full haplogroup not available, haplogroup several versions behind	No
Advanced Matching Between Mitochondrial and Autosomal	Yes	No	No	No

Genealogy – Cousin Matching and Ancestor Search/Verification

People who want to take a DNA test to find cousins, to learn more about their genealogy, to verify their genealogy research or to search for unknown ancestors and break down brick walls will be interested in various types of testing

Test Type	Who Can Test
Y DNA – direct paternal line	Males only
Mitochondrial DNA – direct matrilineal line	Males and Females
Autosomal – all lines	Males and Females

Let’s begin with autosomal DNA testing for genealogy which tests your DNA inherited from all ancestral lines.

Aside from ethnicity, autosomal DNA testing provides matches to other people who have tested. A combination of trees, meaning their genealogy, and their chromosome segments are used to identify (through trees) and verify (through DNA segments) common ancestor(s) and then to assign a particular DNA segment(s) to that ancestor or ancestral couple. This process, called triangulation, then allows you to assign specific segments to particular ancestors, through segment matching among multiple people. You then know that when another individual matches you and those other people on the same segment, that the DNA comes from that same lineage. Triangulation is the only autosomal methodology to confirm ancestors who are not close relatives, beyond the past 2-3 generations or so.

All three vendors provide matching, but the tools they include and their user interfaces are quite different.

Genealogy – Autosomal – Family Tree DNA

Family Tree DNA entered DNA testing years before any of the others, initially with Y and mitochondrial DNA testing.

Because of the diversity of their products, their website is somewhat busier, but they do a good job of providing areas on the tester’s personal landing page for each of the products and within each product, a link for each feature or function.

For example, the Family Finder test is Family Tree DNA’s autosomal test. Within that product, tools provided are:

Matching
Chromosome Browser
Linked Relationships
myOrigins
Ancient Origins
Matrix
Advanced Matching

Unique autosomal tools provided by Family Tree DNA are:

Linked Relationships that allows you to connect individuals that you match to their location in your tree, indicating the proper relationship. Phased Family Matching uses these relationships within your tree to indicate which side of your tree other matches originate from.
Phased Family Matching shows which side of your tree, maternal, paternal or both, someone descends from, based on phased DNA matching between you and linked relationship matches as distant as third cousins. This allows Family Tree DNA to tell you whether matches are paternal (blue icon), maternal (red icon) or both (purple icon) without a parent’s DNA. This is one of the best autosomal tools at Family Tree DNA, shown below.

In Common With and Not In Common With features allow you to sort your matches in common with another individual a number of ways, or matches not in common with that individual.
Filtered downloads provide the downloading of chromosome data for your filtered match list.
Stackable filters and searches – for example, you can select paternal matches and then search for a particular surname or ancestral surname within the paternal matches.
Common ethnicity matching through myOrigins allows you to see selected groups of individuals who match you and share common ethnicities.
Y and mtDNA locations of autosomal matches are provided on your ethnicity map through myOrigins.
Advanced matching tool includes Y, mtDNA and autosomal in various combinations. Also includes matches within projects where the tester is a member as well as by partial surname.
The matrix tool allows the tester to enter multiple people that they match in order to see if those individuals also match each other. The matrix tool is, in combination with the in-common-with tool and the chromosome browser is a form of pseudo triangulation, but does not indicate that the individuals match on the same segment.

Chromosome browser with the ability to select different segment match thresholds to display when comparing 5 or fewer individuals to your results.
Projects to join which provide group interaction and allow individuals to match only within the project, if desired.

To read more about how to utilize the various autosomal tools at Family Tree DNA, with examples, click here.

Genealogy – Autosomal – Ancestry

Ancestry only offers autosomal DNA testing to their customers, so their page is simple and straightforward.

Ancestry is the only testing vendor (other than MyHeritage who is not included in this section) to require a subscription for full functionality, although if you call the Ancestry support line, a minimal subscription is available for $49. You can see your matches without a subscription, but you cannot see your matches trees or utilize other functions, so you will not be able to tell how you connect to your matches. Many genealogists have Ancestry subscriptions, so this is minimally problematic for most people.

However, if you don’t realize you need a subscription initially, the required annual subscription raises the effective cost of the test quite substantially. If you let your subscription lapse, you no longer have access to all DNA features. The cost of testing with Ancestry is the cost of the test plus the cost of a subscription if you aren’t already a subscriber.

This chart, from the Ancestry support center, provides details on which features are included for free and which are only available with a subscription.

Unique tools provided by Ancestry include:

Shared Ancestor Hints (green leaves) which indicate a match with whom you share a common ancestor in your tree connected to your DNA, allowing you to display the path of you and your match to the common ancestor. In order to take advantage of this feature, testers must link their tree to their DNA test. Otherwise, Ancestry can’t do tree matching. As far as I’m concerned, this is the single most useful DNA tool at Ancestry. Subscription required.

DNA Circles, example below, are created when several people whose DNA matches also share a common ancestor. Subscription required.

New Ancestor Discoveries (NADs), which are similar to Circles, but are formed when you match people descended from a common ancestor, but don’t have that ancestor in your tree. The majority of the time, these NADs are incorrect and are, when dissected and the source can be determined, found to be something like the spouse of a sibling of your ancestor. I do not view NADs as a benefit, more like a wild goose chase, but for some people these could be useful so long as the individual understands that these are NOT definitely ancestors and only hints for research. Subscription required.
Ancestry uses a proprietary algorithm called Timber to strip DNA from you and your matches that they consider to be “too matchy,” with the idea that those segments are identical by population, meaning likely to be found in large numbers within a population group – making them meaningless for genealogy. The problem is that Timber results in the removal of valid segments, especially in endogamous groups like Acadian families. This function is unique to Ancestry, but many genealogists (me included) don’t consider Timber a benefit.
Genetic Communities shows you groups of individuals with whom your DNA clusters. The trees of cluster members are then examined by Ancestry to determine connections from which Genetic Communities are formed. You can filter your DNA match results by Genetic Community.

Genealogy – Autosomal – 23and Me

Unfortunately, the 23andMe website is not straightforward or intuitive. They have spent the majority of the past two years transitioning to a “New Experience” which has resulted in additional confusion and complications when matching between people on multiple different platforms. You can take a spin through the New Experience by clicking here.

23andMe requires people to opt-in to sharing, even after they have selected to participate in Ancestry Services (genealogy) testing, have opted-in previously and chosen to view their DNA Relatives. Users on the “New Experience” can then either share chromosome data and results with each other individually, meaning on a one by one basis, or globally by a one-time opt-in to “open sharing” with matches. If a user does not opt-in to both DNA Relatives and open sharing, sharing requests must be made individually to each match, and they must opt-in to share with each individual user. This complexity and confusion results in an approximate sharing rate of between 50 and 60%. One individual who religiously works their matches by requesting sharing now has a share rate of about 80% of their matches in the data base who HAVE initially selected to participate in DNA Relatives. You can read more about the 23andMe experience at this link.

Various genetic genealogy reports and tools are scattered between the Reports and Tools tabs, and within those, buried in non-intuitive locations. If you are going to utilize 23andMe for matching and genealogy, in addition to the above link, I recommend Kitty Cooper’s blogs about the new DNA Relatives here and on triangulation here. Print the articles, and use them as a guide while navigating the 23andMe site.

Note that some screens (the Tools, DNA Relatives, then DNA tab) on the site do not display/work correctly utilizing Internet Explorer, but do with Edge or other browsers.

The one genealogy feature unique to 23andMe is:

Triangulation at 23andMe allows you to select a specific match to compare your DNA against. Several pieces of information will be displayed, the last of which, scrolling to the bottom, is a list of your common relatives with the person you selected.

In the example below, I’ve selected to see the matches I match in common with known family member, Stacy Den (surnames have been obscured for privacy reasons.) Please note that the Roberta V4 Estes kit is a second test that I took for comparison purposes when the new V4 version of 23andMe was released. Just ignore that match, because, of course I match myself as a twin.

If an individual does not match both you and your selected match, they will not appear on this list.

In the “relatives in common” section, each person is listed with a “shared DNA” column. For a person to be shown on this “in common” list, you obviously do share DNA with these individuals and they also share with your match, but the “shared DNA” column goes one step further. This column indicates whether or not you and your match both share a common DNA segment with the “in common” person.

I know this is confusing, so I’ve created this chart to illustrate what will appear in the “Shared DNA” column of the individuals showing on the list of matches, above, shared between me and Stacy Den.

Clicking on “Share to see” sends Sarah a sharing request for her to allow you to see her segment matches.

Let’s look at an example with “yes” in the Shared DNA column.

Clicking on the “Yes” in the Shared DNA column of Debbie takes us to the chromosome browser which shows both your selected match, Stacy in my case, and Debbie, the person whose “yes” you clicked.

All three people, meaning me, Stacy and Debbie share a common DNA segment, shown below on chromosome 17.

What 23andMe does NOT say is that these people. Stacy and Debbie, also match each other, in addition to matching me, which means all three of us triangulate.

Because I manage Stacy’s kit at 23andMe, I can check to see if Debbie is on Stacy’s match list, and indeed, Debbie is on Stacy’s match list and Stacy does match both Debbie and me on chromosome 17 in exactly the same location shown above, proving unquestionably that the three of us all match each other and therefore triangulate on this segment. In our case, it’s easy to identify our common relative whose DNA all 3 of us share.

Genealogy – Autosomal Summary

While all 3 vendors offer matching, their interfaces and tools vary widely.

I would suggest that Ancestry is the least sophisticated and has worked hard to make their tools easy for the novice working with genetic genealogy. Their green leaf DNA+Tree Matching is their best feature, easy to use and important for the novice and experienced genealogist alike. Now, if they just had that chromosome browser so we could see how we match those people.

Ancestry’s Circles, while a nice feature, encourage testers to believe that their DNA or relationship is confirmed by finding themselves in a Circle, which is not the case.

Circles can be formed as the result of misinformation in numerous trees. For example, if I were to inaccurately list Smith as the surname for one of my ancestor’s wives, I would find myself in a Circle for Barbara Smith, when in fact, there is absolutely no evidence whatsoever that her surname is Smith. Yet, people think that Barbara Smith is confirmed due to a Circle having been formed and finding themselves in Barbara Smith’s Circle. Copying incorrect trees equals the formation of incorrect Circles.

It’s also possible that I’m matching people on multiple lines and my DNA match to the people in any given Circle is through another common ancestor entirely.

A serious genealogist will test minimally at Ancestry and at Family Tree DNA, who provides a chromosome browser and other tools necessary to confirm relationships and shared DNA segments.

Family Tree DNA is more sophisticated, so consequently more complex to use. They provide matching plus numerous other tools. The website and matching is certainly friendly for the novice, but to benefit fully, some experience or additional education is beneficial, not unlike traditional genealogy research itself. This is true not just for Family Tree DNA, but GedMatch and 23andMe who all three utilize chromosome browsers.

The user will want to understand what a chromosome browser is indicating about matching DNA segments, so some level of education makes life a lot easier. Fortunately, understanding chromosome browser matching is not complex. You can read an article about Match Groups and Triangulation here. I also have an entire series of Concepts articles, Family Tree DNA offers a webinar library, their Learning Center and other educational resources are available as well.

Family Tree DNA is the only vendor to provide Phased Family Matches, meaning that by connecting known relatives who have DNA tested to your tree, Family Tree DNA can then identify additional matches as maternal, paternal or both. This, in combination with pseudo-phasing are very powerful matching tools.

23andMe is the least friendly of the three companies, with several genetic genealogy unfriendly restrictions relative to matching, opt-ins, match limits and such. They have experienced problem after problem for years relative to genetic genealogy, which has always been a second-class citizen compared to their medical research, and not a priority.

23andMe has chosen to implement a business model where their customers must opt-in to share segment information with other individuals, either one by one or by opting into open sharing. Based on my match list, roughly 60% of my actual DNA matches have opted in to sharing.

Their customer base includes fewer serious genealogists and their customers often are not interested in genealogy at all.

Having said that, 23andMe is the only one of the three that provides actual triangulated matches for users on the New Experience and who have opted into sharing.

If I were entering the genetic genealogy testing space today, I would test my autosomal DNA at Ancestry and at Family Tree DNA, but I would probably not test at 23andMe. I would test both my Y DNA (if a male) and mitochondrial at Family Tree DNA.

Thank you to Kitty Cooper for assistance with parent/child matching and triangulation at 23andMe.

Genealogy Autosomal Vendor Feature Summary Chart

	Family Tree DNA	Ancestry	23andMe
Matching	Yes	Yes	Yes – each person has to opt in for open sharing or authorize sharing individually, many don’t
Estimated Relationships	Yes	Yes	Yes
Chromosome Browser	Yes	No – Large Issue	Yes
Chromosome Browser Threshold Adjustment	Yes	No Chromosome Browser	No
X Chromosome Matching	Yes	No	Yes
Trees	Yes	Yes – subscription required so see matches’ trees	No
Ability to upload Gedcom file	Yes	Yes	No
Ability to search trees	Yes	Yes	No
Subscription in addition to DNA test price	No	No for partial, Yes for full functionality, minimal subscription for $49 by calling Ancestry	No
DNA + Ancestor in Tree Matches	No	Yes – Leaf Hints – subscription required – Best Feature	No
Phased Parental Side Matching	Yes – Best Feature	No	No
Parent Match Indicator	Yes	No	Yes
Sort or Group by Parent Match	Yes	Yes	Yes
In Common With Tool	Yes	Yes	Yes
Not In Common With Tool	Yes	No	No
Triangulated Matches	No – pseudo with ICW, browser and matrix	No	Yes – Best Feature
Common Surnames	Yes	Yes – subscription required	No
Ability to Link DNA Matches on Tree	Yes	No	No
Matrix to show match grid between multiple matches	Yes	No	No
Match Filter Tools	Yes	Minimal	Some
Advanced Matching Tool	Yes	No	No
Multiple Test Matching Tool	Yes	No multiple tests	No multiple tests
Ethnicity Matching	Yes	No	Yes
Projects	Yes	No	No
Maximum # of Matches Restricted	No	No	Yes – 2000 unless you are communicating with the individuals, then they are not removed from your match list
All Customers Participate	Yes	Yes, unless they don’t have a subscription	No – between 50-60% opt-in
Accepts Transfers from Other Testing Companies	Yes	No	No
Free Features with Transfer	Matching, ICW, Matrix, Advanced Matching	No transfers	No transfers
Transfer Features Requiring Unlock $	Chromosome Browser, Ethnicity, Ancient Origins, Linked Relationships, Parentally Phased Matches	No Transfers	No transfers
Archives DNA for Later Testing	Yes, 25 years	No, no additional tests available	No, no additional tests available
Additional Tool		DNA Circles – subscription required
Additional Tool		New Ancestor Discoveries – subscription required
Y DNA	Not included in autosomal test but is additional test, detailed results including matching	No	Haplogroup only
Mitochondrial DNA	Not included in autosomal test but is additional test, detailed results including matching	No	Haplogroup only
Advanced Testing Available	Yes	No	No
Website Intuitive	Yes, given their many tools	Yes, very simple	No
Data Base Size	Large	Largest	Large but many do not test for genealogy, only test for health
Strengths	Many tools, multiple types of tests, phased matching without parent	DNA + Tree matching, size of data base	Triangulation
Challenges	Website episodically times out	No chromosome browser or advanced tools	Sharing is difficult to understand and many don’t, website is far from intuitive

Genealogy – Y and Mitochondrial DNA

Two indispensable tools for genetic genealogy that are often overlooked are Y and mitochondrial DNA.

The inheritance path for Y DNA is shown by the blue squares and the inheritance path for mitochondrial DNA is shown by the red circles for the male and female siblings shown at the bottom of the chart.

Y-DNA Testing for Males

Y DNA is inherited by males only, from their father. The Y chromosome makes males male. Women instead inherit an X chromosome from their father, which makes them female. Because the Y chromosome is not admixed with the DNA of the mother, the same Y chromosome has been passed down through time immemorial.

Given that the Y chromosome follows the typical surname path, Y DNA testing is very useful for confirming surname lineage to an expected direct paternal ancestor. In other words, an Estes male today should match, with perhaps a few mutations, to other descendants of Abraham Estes who was born in 1647 in Kent, England and immigrated to the colony of Virginia.

Furthermore, that same Y chromosome can look far back in time, thousands of years, to tell us where that English group of Estes men originated, before the advent of surnames and before the migration to England from continental Europe. I wrote about the Estes Y DNA here, so you can see an example of how Y DNA testing can be used.

Y DNA testing for matching and haplogroup identification, which indicates where in the world your ancestors were living within the past few hundred to few thousand years, is only available from Family Tree DNA. Testing can be purchased for either 37, 67 or 111 markers, with the higher marker numbers providing more granularity and specificity in matching.

Family Tree DNA provides three types of Y DNA tests.

STR (short tandem repeat) testing is the traditional Y DNA testing for males to match to each other in a genealogically relevant timeframe. These tests can be ordered in panels of 37, 67 or 111 markers and lower levels can be upgraded to higher levels at a later date. An accurate base haplogroup prediction is made from STR markers.
SNP (single nucleotide polymorphism) testing is a different type of testing that tests single locations for mutations in order to confirm and further refine haplogroups. Think of a haplogroup as a type of genetic clan, meaning that haplogroups are used to track migration of humans through time and geography, and are what is utilized to determine African, European, Asian or Native heritage in the direct paternal line. SNP tests are optional and can be ordered one at a time, in groups called panels for a particular haplogroup or a comprehensive research level Y DNA test called the Big Y can be ordered after STR testing.
The Big Y test is a research level test that scans the entire Y chromosome to determine the most refined haplogroup possible and to report any previously unknown mutations (SNPs) that may define further branches of the Y DNA tree. This is the technique used to expand the Y haplotree.

You can read more about haplogroups here and about the difference between STR markers and SNPs here, here and here.

Customers receive the following features and tools when they purchase a Y DNA test at Family Tree DNA or the Ancestry Services test at 23andMe. The 23andMe Y DNA information is included in their Ancestry Services test. The Family Tree DNA Y DNA information requires specific tests and is not included in the Family Finder test. You can click here to read about the difference in the technology between Y DNA testing at Family Tree DNA and at 23andMe. Ancestry is not included in this comparison because they provide no Y DNA related information.

Y DNA Vendor Feature Summary Chart

	Family Tree DNA	23andMe
Varying levels of STR panel marker testing	Yes, in panels of 37, 67 and 111 markers	No
Test panel (STR) marker results	Yes	Not tested
Haplogroup assignment	Yes – accurate estimate with STR panels, deeper testing available	Yes –base haplogroup by scan – haplogroup designations are significantly out of date, no further testing available
SNP testing to further define haplogroup	Yes – can purchase individual SNPs, by SNP panels or Big Y test	No
Matching to other participants	Yes	No
Trees available for your matches	Yes	No
E-mail of matches provided	Yes	No
Calculator tool to estimate probability of generational distance between you and a match	Yes	No
Earliest known ancestor information	Yes	No
Projects	Surname, haplogroup and geographic projects	No
Ability to search Y matches	Yes	No Y matching
Ability to search matches within projects	Yes	No projects
Ability to search matches by partial surname	Yes	No
Haplotree and customer result location on tree	Yes, detailed with every branch	Yes, less detailed, subset
Terminal SNP used to determine haplogroup	Yes	Yes, small subset available
Haplogroup Map	Migration map	Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level	Yes	No
Haplogroup Origins – match ancestral location summary by haplogroup, by test level	Yes	No
SNP map showing worldwide locations of any selected SNP	Yes	No
Matches map showing mapped locations of your matches most distant ancestor in the paternal line, by test panel	Yes	No
Big Y – full scan of Y chromosome for known and previously unknown mutations (SNPs)	Yes	No
Big Y matching	Yes	No
Big Y matching known SNPs	Yes	No
Big Y matching novel variants (unknown or yet unnamed SNPs)	Yes	No
Filter Big Y matches	Yes	No
Big Y results	Yes	No
Advanced matching for multiple test types	Yes	No
DNA is archived so additional tests or upgrades can be ordered at a later date	Yes, 25 years	No

Mitochondrial DNA Testing for Everyone

Mitochondrial DNA is contributed to both genders of children by mothers, but only the females pass it on. Like the Y chromosome, mitochondrial DNA is not admixed with the DNA of the other parent. Therefore, anyone can test for the mitochondrial DNA of their matrilineal line, meaning their mother’s mother’s mother’s lineage.

Matching can identify family lines as well as ancient lineage.

You receive the following features and tools when you purchase a mitochondrial DNA test from Family Tree DNA or the Ancestry Services test from 23andMe. The Family Tree DNA mitochondrial DNA information requires specific tests and is not included in the Family Finder test. The 23andMe mitochondrial information is provided with the Ancestry Services test. Ancestry is omitted from this comparison because they do not provide any mitochondrial information.

Mitochondrial DNA Vendor Feature Summary Chart

	Family Tree DNA	23andMe
Varying levels of testing	Yes, mtPlus and Full Sequence	No
Test panel marker results	Yes, in two formats, CRS and RSRS	No
Rare mutations, missing and extra mutations, insertions and deletions reported	Yes	No
Haplogroup assignment	Yes, most current version, Build 17	Yes, partial and out of date version
Matching to other participants	Yes	No
Trees of matches available to view	Yes	No
E-mail address provided to matches	Yes	No
Earliest known ancestor information	Yes	No
Projects	Surname, haplogroup and geographic available	No
Ability to search matches	Yes	No
Ability to search matches within project	Yes	No projects
Ability to search match by partial surname	Yes	No
Haplotree and customer location on tree	No	Yes
Mutations used to determine haplogroup provided	Yes	No
Haplogroup Map	Migration map	Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level	Yes	No
Haplogroup Origins –match ancestral location summary by haplogroup	Yes	No
Matches map showing mapped locations of your matches most distant ancestor in the maternal line, by test level	Yes	No
Advanced matching for multiple test types	Yes	No
DNA is archived so additional tests or upgrades can be ordered at a later date	Yes, 25 years	No

Overall Genealogy Summary

Serious genealogists should test with at least two of the three major vendors, being Family Tree DNA and Ancestry, with 23andMe coming in as a distant third.

No genetic genealogy testing regimen is complete without Y and mitochondrial DNA for as many ancestral lines as you can find to test. You don’t know what you don’t know, and you’ll never know if you don’t test.

Unfortunately, many people, especially new testers, don’t know Y and mitochondrial DNA testing for genetic genealogy exists, or how it can help their genealogy research, which is extremely ironic since these were the first tests available, back in 2000.

You can read about finding Y and mitochondrial information for various family lines and ancestors and how to assemble a DNA Pedigree Chart here.

You can also take a look at my 52 Ancestors series, where I write about an ancestor every week. Each article includes some aspect of DNA testing and knowledge gained by a test or tests, DNA tool, or comparison. The DNA aspect of these articles focuses on how to use DNA as a tool to discover more about your ancestors.

Testing for Medical/Health or Traits

The DTC market also includes health and medical testing, although it’s not nearly as popular as genetic genealogy.

Health/medical testing is offered by 23andMe, who also offers autosomal DNA testing for genealogy.

Some people do want to know if they have genetic predispositions to medical conditions, and some do not. Some want to know if they have certain traits that aren’t genealogically relevant, but might be interesting – such as whether they carry the Warrior gene or if they have an alcohol flush reaction.

23andMe was the first company to dip their toes into the water of Direct to Consumer medical information, although they called it “health,” not medicine, at that time. Regardless of the terminology, information regarding Parkinson’s and Alzheimer’s, for example, were provided for customers. 23andMe attempted to take the raw data and provide the consumer with something approaching a middle of the road analysis, because sometimes the actual studies provide conflicting information that might not be readily understood by consumers.

The FDA took issue with 23andMe back in November of 2013 when they ordered 23andMe to discontinue the “health” aspect of their testing after 23andMe ignored several deadlines. In October 2015, 23andMe obtained permission to provide customers with some information, such as carrier status, for 36 genetic disorders.

Since that time, 23andMe has divided their product into two separate tests, with two separate prices. The genealogy only test called Ancestry Service can be purchased separately for $99, or the combined Health + Ancestry Service for $199.

If you are interested in seeing what the Health + Ancestry test provides, you can click here to view additional information.

However, there is a much easier and less expensive solution.

If you have taken the autosomal test from 23andMe, Ancestry or Family Tree DNA, you can download your raw data file from the vendor and upload to Promethease to obtain a much more in-depth report than is provided by 23andMe, and much less expensively – just $5.

I reviewed the Promethease service here. I found the Promethease reports to be very informative and I like the fact that they provide information, both positive and negative for each SNP (DNA location) reported. Promethease avoids FDA problems by not providing any interpretation or analysis, simply the data and references extracted from SNPedia for you to review.

I would be remiss if I didn’t mention that you should be sure you really want to know before you delve into medical testing. Some mutations are simply indications that you could develop a condition that you will never develop or that is not serious. Other mutations are not so benign. Promethease provides this candid page before you upload your data.

Different files from different vendors provide different results at Promethease, because those vendors test different SNP locations in your DNA. At the Promethease webpage, you can view examples.

Traits

Traits fall someplace between genealogy and health. When you take the Health + Ancestry test at 23andMe, you do receive information about various traits, as follows:

Of course, you’ll probably already know if you have several of these traits by just taking a look in the mirror, or in the case of male back hair, by asking your wife.

At Family Tree DNA, existing customers can order tests for Factoids (by clicking on the upgrade button), noted as curiosity tests for gene variants.

Family Tree DNA provides what I feel is a great summary and explanation of what the Factoids are testing on their order page:

“Factoids” are based on studies – some of which may be controversial – and results are not intended to diagnose disease or medical conditions, and do not serve the purpose of medical advice. They are offered exclusively for curiosity purposes, i.e. to see how your result compared with what the scientific papers say. Other genetic and environmental variables may also impact these same physiological characteristics. They are merely a conversational piece, or a “cocktail party” test, as we like to call it.”

Test	Price	Description
Alcohol Flush Reaction	$19	A condition in which the body cannot break down ingested alcohol completely. Flushing, after consuming one or two alcoholic beverages, includes a range of symptoms: nausea, headaches, light-headedness, an increased pulse, occasional extreme drowsiness, and occasional skin swelling and itchiness. These unpleasant side effects often prevent further drinking that may lead to further inebriation, but the symptoms can lead to mistaken assumption that the people affected are more easily inebriated than others.
Avoidance of Errors	$29	We are often angry at ourselves because we are unable to learn from certain experiences. Numerous times we have made the wrong decision and its consequences were unfavorable. But the cause does not lie only in our thinking. A mutation in a specific gene can also be responsible, because it can cause a smaller number of dopamine receptors. They are responsible for remembering our wrong choices, which in turn enables us to make better decisions when we encounter a similar situation.
Back Pain	$39	Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and patients use the term lumbar disc disease to encompass several different causes of back pain or sciatica. A study of Asian patients with lumbar disc disease showed that a mutation in the CILP gene increases the risk of back pain.
Bitter Taste Perception	$29	There are several genes that are responsible for bitter taste perception – we test 3 of them. Different variations of this gene affect ability to detect bitter compounds. About 25% of people lack ability to detect these compounds due to gene mutations. Are you like them? Maybe you don’t like broccoli, because it tastes too bitter?
Caffeine Metabolism	$19	According to the results of a case-control study reported in the March 8, 2006 issue of JAMA, coffee is the most widely consumed stimulant in the world, and caffeine consumption has been associated with increased risk for non-fatal myocardial infarction. Caffeine is primarily metabolized by the cytochrome P450 1A2 in the liver, accounting for 95% of metabolism. Carriers of the gene variant 1F allele are slow caffeine metabolizers, whereas individuals homozygous for the 1A/*1A genotype are rapid caffeine metabolizers.
Earwax Type	$19	Whether your earwax is wet or dry is determined by a mutation in a single gene, which scientists have discovered. Wet earwax is believed to have uses in insect trapping, self-cleaning and prevention of dryness in the external auditory canal of the ear. It also produces an odor and causes sweating, which may play a role as a pheromone.
Freckling	$19	Freckles can be found on anyone no matter what the background. However, having freckles is genetic and is related to the presence of the dominant melanocortin-1 receptor MC1R gene variant.
Longevity	$49	Researchers at Harvard Medical School and UC Davis have discovered a few genes that extend lifespan, suggesting that the whole family of SIR2 genes is involved in controlling lifespan. The findings were reported July 28, 2005 in the advance online edition of Science.
Male Pattern Baldness	$19	Researchers at McGill University, King’s College London and GlaxoSmithKline Inc. have identified two genetic variants in Caucasians that together produce an astounding sevenfold increase of the risk of male pattern baldness. Their results were published in the October 12, 2008 issue of the Journal of Nature Genetics.
Monoamine Oxidase A (Warrior Gene)	$49.50	The Warrior Gene is a variant of the gene MAO-A on the X chromosome. Recent studies have linked the Warrior Gene to increased risk-taking and aggressive behavior. Whether in sports, business, or other activities, scientists found that individuals with the Warrior Gene variant were more likely to be combative than those with the normal MAO-A gene. However, human behavior is complex and influenced by many factors, including genetics and our environment. Individuals with the Warrior Gene are not necessarily more aggressive, but according to scientific studies, are more likely to be aggressive than those without the Warrior Gene variant. This test is available for both men and women, however, there is limited research about the Warrior Gene variant amongst females. Additional details about the Warrior Gene genetic variant of MAO-A can be found in Sabol et al, 1998.
Muscle Performance	$29	A team of researchers, led by scientists at Dartmouth Medical School and Dartmouth College, have identified and tested a gene that dramatically alters both muscle metabolism and performance. The researchers say that this finding could someday lead to treatment of muscle diseases, including helping the elderly who suffer from muscle deterioration and improving muscle performance in endurance athletes.
Nicotine Dependence	$19	In 2008, University of Virginia Health System researchers have identified a gene associated with nicotine dependence in both Europeans and African Americans.

Many people are interested in the Warrior Gene, which I wrote about here.

At Promethease, traits are simply included with the rest of the conditions known to be associated with certain SNPs, such as baldness, for example, but I haven’t done a comparison to see which traits are included.

Additional Vendor Information to Consider

Before making your final decision about which test or tests to purchase, there are a few additional factors you may want to consider.

As mentioned before, Ancestry requires a subscription in addition to the cost of the DNA test for the DNA test to be fully functional.

One of the biggest issues, in my opinion, is that both 23andMe and Ancestry sell customer’s anonymized DNA information to unknown others. Every customer authorizes the sale of their information when they purchase or activate a kit – even though very few people actually take the time to read the Terms and Conditions, Privacy statements and Security documents, including any and all links. This means most people don’t realize they are authorizing the sale of their DNA.

At both 23andMe and Ancestry, you can ALSO opt in for additional non-anonymized research or sale of your DNA, which you can later opt out of. However, you cannot opt out of the lower level sale of your anonymized DNA without removing your results from the data base and asking for your sample to be destroyed. They do tell you this, but it’s very buried in the fine print at both companies. You can read more here.

Family Tree DNA does not sell your DNA or information.

All vendors can change their terms and conditions at any time. Consumers should always thoroughly read the terms and conditions including anything having to do with privacy for any product they purchase, but especially as it relates to DNA testing.

Family Tree DNA archives your DNA for later testing, which has proven extremely beneficial when a family member has passed away and a new test is subsequently introduced or the family wants to upgrade a current test. Had my mother’s DNA not been archived at Family Tree DNA, I would not have Family Finder results for her today – something I thank Mother and Family Tree DNA for every single day.

Family Tree DNA also accepts transfer files from 23andMe, Ancestry and very shortly, MyHeritage – although some versions work better than others. For details on which companies accept which file versions, from which vendors, and why, please read Autosomal DNA Transfers – Which Companies Accept Which Tests?

If you tested on a compatible version of the 23andMe Test (V3 between December 2010 and November 2013) or the Ancestry V1 (before May 2016) you may want to transfer your raw data file to Family Tree DNA for free and pay only $19 for full functionality, as opposed to taking the Family Finder test. Family Tree DNA does accept later versions of files from 23andMe and Ancestry, but you will receive more matches if you test on the same chip platform that Family Tree DNA utilizes instead of doing a transfer.

Additional Vendor Considerations Summary Chart

	Family Tree DNA	Ancestry	23andMe
Subscription required in addition to cost of DNA test	No	Yes for full functionality, partial functionality is included without subscription, minimum subscription is $49 by calling Ancestry	No
Customer Support	Good and available	Available, nice but often not knowledgeable about DNA	Poor
Sells customer DNA information	No	Yes	Yes
DNA raw data file available to download	Yes	Yes	Yes
DNA matches file available to download including match info and chromosome match locations	Yes	No	Yes
Customers genealogically focused	Yes	Yes	Many No
Accepts DNA raw data transfer files from other companies	Yes, most, see article for specifics	No	No
DNA archived for later testing	Yes, 25 years	No	No
Beneficiary provision available	Yes	No	No

Which Test is Best For You?

I hope you now know the answer as to which DNA test is best for you – or maybe it’s multiple tests for you and other family members too!

DNA testing holds so much promise for genealogy. I hesitate to call DNA testing a miracle tool, but it often is when there are no records. DNA testing works best in conjunction with traditional genealogical research.

There are a lot of tests and options. The more tests you take, the more people you match. Some people test at multiple vendors or upload their DNA to third party sites like GedMatch, but most don’t. In order to make sure you reach those matches, which may be the match you desperately need, you’ll have to test at the vendor where they tested. Otherwise, they are lost to you. That means, of course, that eventually, if you’re a serious genealogist, you’ll be testing at all 3 vendors. Don’t forget about Y and mitochondrial tests at Family Tree DNA.

Recruit family members to test and reach out to your matches. The more you share and learn – the more is revealed about your ancestors. You are, after all, the unique individual that resulted from the combination of all of them!

Update: Vendor prices updated June 22, 2017.

______________________________________________________________

Disclosure

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

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Legacy Tree Genealogists for genealogy research

Introducing the Match-Maker-Breaker Tool for Parental Phasing

Posted on April 6, 2017 by Roberta Estes

A few days after I published the article, Concepts – Segment Size, Legitimate and False Matches, Philip Gammon, a statistician who lives in Australia, posted a comment to my blog.

Great post Roberta! I’m a statistician so my eyes light up as soon as I see numbers. That table you have produced showing by segment length the percentage that are IBD is one of the most useful pieces of information that I have seen. Two days to do the analysis!!! I’m sure that I could write a formula that would identify the IBD segments and considerably reduce this time.

By this time, my eyes were lighting up too, because the work for the original article had taken me two days to complete manually, just using segments 3 cM and above. Using smaller segments would have taken days longer. By manually, I mean comparing the child’s matches with that of both parents’ matches to see which, if either, parent the child’s match also matches on the same segment.

In the simplest terms, the Segment Size article explained how to copy the child’s and both parents’ matches to a spreadsheet and then manually compare the child’s matches to those of the parents. In the example above, you can see that both the child and the mother have matches to Cecelia. As it turns out, the exact same segment of DNA was passed in its entirety to the child from the mother, who is shown in pink – so Cecelia matches both the child and the parent on exactly the same segment.

That’s not always the case, and the Segment Size article went into much greater detail.

For the past month or so, Philip and I have been working back and forth, along with some kind volunteers who tested Philip’s new tool, in order to create something so that you too can do this comparison and in much less than two days.

Foundation

Here’s the underlying principle for this tool – if a child has a match that does NOT match either parent on the same segment, then the match is not a legitimate match. It’s a false match, identical by chance, and it is NOT genealogically relevant.

If the child’s match also matches either parent on the same segment, it is most likely a match by descent and is genealogically relevant.

For those of you who noticed the words “most likely,” yes, it is possible for someone to match a parent and child both and still not phase (or match) to the next higher generation, but it’s unusual and so far, only found in smaller segments. I wrote about multiple generation phasing in the article, “Concepts – Segment Survival – 3 and 4 Generation Phasing.” Once a segment phases, it tends to continue phasing, especially with segments above about 3.5 cM.

For those who have both parents available to test, phased matching is a HUGE benefit.

But I Have Only One Parent Available

You can still use the tool to identify matches to that one parent, but you CANNOT presume that matches that DON’T match that parent are from the other (missing) parent. Matches matching the child but not matching the tested parent can be due to:

A match to the missing parent
A false match that is not genealogically relevant

According to the statistics generated from Philip’s Match-Maker-Breaker tool, shown below, segments 9 cM and above tend to match one or the other parent 90% or more of the time. Segments 12 cM and over match 97% of the time or more, so, in general, one could “assume” (dangerous word, I know) that segments of this size that don’t match to the tested parent would match to the other parent if the other parent was available. You can also see that the reliability of that assumption drops rapidly as the segment sizes get smaller.

Platform

This tool was written utilizing Microsoft Excel and only works reliably on that platform.

If you are using Excel and are NOT attempting to use MAC Numbers, skip this section. If you want to attempt to use Numbers, read this section.

I tried, along with a MAC person, to try to coax Numbers (free MAC spreadsheet) into working. If you have any other option other than using Numbers, so do. Microsoft Excel for MAC seemed to work fine, but it was only tested on one MAC.

Here’s what I discovered when trying to make Numbers work:

You must first launch numbers and then select the various spreadsheets.
The tabs are not at the bottom and are instead at the top without color.
The instructions for copying the formulas in cells H2-K2 throughout the spreadsheet must be done manually with a copy/paste.
After the above step, the calculations literally took a couple hours (MacBook Air) instead of a couple minutes on the PC platform. The older MAC desktop still took significantly longer than on a Microsoft PC, but less time than the solid state MacBook Air.
After the calculations complete, the rows on the child’s spreadsheet are not colored, which is one of the major features of the Match-Maker-Breaker tool, as Numbers reports that “Conditional highlighting rules using formulas are not supported and were removed.”
Surprisingly, the statistical Reports page seems to function correctly.

How Long Does Running Match-Maker-Breaker Tool on a PC Take?

The first time I ran this tool, which included reading Philip’s instructions for the first time, the entire process took me about 10 minutes after I downloaded the files from Family Tree DNA.

Vendors

This tool only works with matches downloaded from Family Tree DNA.

Transfer Kits

It’s strongly suggested that all 3 individuals being compared have tested at Family Tree DNA or on the same chip version imported into Family Tree DNA.

Matches not run on the same chip as Family Tree DNA testers can only provide a portion of the matches that the same person’s results run on the FTDNA chip can provide. You can run the matching tool with transferred results, but the results will only provide a subset of the results that will be provided by having all parties that are being compared, meaning the child and both parents, test at Family Tree DNA.

The following products versions CAN be all be compared successfully at Family Tree DNA, as they all utilize the same Illumina chip:

All Family Finder tests
Ancestry V1 (before May 2016)
23andMe V3 (before November 2013)
MyHeritage

The following tests do NOT utilize the same Illumina testing platform and cannot be compared successfully with Family Finder tests from Family Tree DNA, or the list above. Cross platform testing results cannot be reliably compared. Those that DO match will be accurate, but many will not match that would match if all 3 testers were utilizing the same platform, therefore leading you to inaccurate conclusions.

Ancestry V2 (beginning in May 2016 to present)
23andMe V4 (beginning November 2013 to present)

The child and two parents should not be compared utilizing mixed platforms – meaning, for example, that the child should not have been tested at FTDNA and the parents transferred from Ancestry on the V2 platform since May 2016.

If any of the three family members, being the child or either parent, have tested on an incompatible platform, they should retest at Family Tree DNA before using this tool.

What You Need

You will need to download the chromosome match lists from the child and both parents, AT THE SAME TIME. I can’t stress this enough, because any matches that have been added for either of the three people at a later time than the others will skew the matching and the statistics. Matches are being added all the time.
You will also need a relatively current version of Excel on your computer to run this tool. No, I did not do version compatibility testing so I don’t know how old is too old. I am running MSOffice 2013.
You will need to know how to copy and paste data from and to a spreadsheet.

Instructions for Downloading Match Files

My recommendation is that you download your matches just before utilizing this tool.

To download your matches, sign on to each account. On your main page, you will see the Family Finder section, and the Chromosome Browser. Click on that link.

At the top of the chromosome browser page, below, you’ll see the image of chromosomes 1 through X. At the top right, you’ll see the option to “Download all matches to Excel (CSV Format). Click on that link.

Next, you’ll receive a prompt to open or save the file. Save it to a file name that includes the name of the person plus the date you did the download. I created a separate folder so there would be no confusion about which files are which and whether or not they are current.

Your match file includes all of your matches and the chromosome matching locations like the example shown below.

These files of matches are what you’ll need to copy into the Match-Maker-Breaker spreadsheet.

Do not delete any information from your match spreadsheets. If you normally delete small segments, don’t. You may cause a non-match situation if the parent carries a larger portion of the same segment.

You can rerun the Match-Maker-Breaker tool at will, and it only takes a very few minutes.

The Match-Maker-Breaker Tool

The Match-Maker-Breaker Tool has 5 sheets when you open the spreadsheet:

Instructions – Please read entirely before beginning.
Results – The page where your statistical results will be placed.
Child – The page where you will paste the child’s matches and then look at the match results after processing.
Father – The page where you will paste the father’s matches.
Mother – The page where you will paste the mother’s matches.

Download

Download the free Match-Maker-Breaker tool which is a spreadsheet by clicking on this link: Match-Maker-Breaker Tool V2

Please don’t start using the tool before reading the instructions completely and reading the rest of this article.

Make a Copy

After you download the tool, make a copy on your system. You’ll want to save the Match-Maker-Breaker spreadsheet file for each trio of people individually, and you’ll want a fresh Match-Maker-Breaker spreadsheet copy to run with each new set of download files.

Instructions

I’m not going to repeat Philip’s instructions here, but please read them entirely before beginning and please follow them exactly. Philip has included graphic illustrations of each step to the right of the instruction box. The spreadsheet opens to the Instructions page. You can print the instruction page as well.

Copy/Pasting Data

When copying the parents’ and child’s data into the spreadsheets, do NOT copy and paste the entire page by selecting the page. Select and copy the relevant columns by highlighting columns A through G by touching your cursor to the A-G across the top, as shown below. After they are selected, then click on “copy.” In the child’s chromosome browser download spreadsheet, position the curser in the first cell in row 1 in the child’s page of the Match-Maker-Breaker spreadsheet and click on “paste.”

Do NOT select columns H-K when highlighting and copying, or your paste will wipe out Philip’s formulas to do calculations on the child’s tab on the spreadsheet.

The example above, assuming that Annie is the last entry on the spreadsheet, shows that I’ve highlighted all of the cells in columns A-G, prior to executing the copy command. Your spreadsheets of course will be much longer.

I wrote a very quick and dirty article about using Excel here

The Match Making Breaking Part

After you copy the formulas from rows H2 to K2 through the rest of the spreadsheet by following Philip’s instructions, you’ll see the results populating in the status bar at the bottom. You’ll also see colors being added to the matches on the left hand side of the spreadsheet page and counts accruing in the 4 right columns. Be patient and wait. It may take a few minutes. When it’s finished, you can verify by scrolling to the last row on the child’s page and you’ll see something like the example below, where every row has been assigned a color and every match that matches the child and the father, mother, both or is found in the HLA region is counted as 1 in the right 4 columns.

In this example, 5 segments, shown in grey, don’t match anyone, one, shown in tan is found in the HLA region, and three match the father, in blue.

Output

After you run the Match-Maker-Breaker tool, the child’s matches on the Child tab will be identified as follows:

This means that segment of the child that matches that individual also matches the father, the mother, both parents, the HLA region, or none of the above on all or part of that same segment.

What is a Match?

Philip and I worked to answer the question, “what is a match?” In the Concepts article, I discussed the various kinds of matches.

Full match: The child’s match and parent’s match share the same exact segment, meaning same start and end points and same number of SNPs within that segment.
Partial match: The child’s match matches a portion of the segment from the parent – meaning that the child inherited part of the segment, but not the entire segment.
Overhanging match: The child’s match matches part or all of the parent’s segment, but either the beginning or end extends further than the parents match. This means that the overlapping portion is legitimate, meaning identical by descent (IBD), but the overhanging portion is identical by chance (IBC.)
Nested match: The child’s match is smaller than the match to the parent, but fully within the parent’s match, indicating a legitimate match.
No match: The person matches the child, but neither parent, meaning that this match is not legitimate. It’s identical by chance (IBC).

Full matches and no matches are easy.

However, partial matches, overlapping matches and nested matches are not as straightforward.

What, exactly, is a match? Let’s look at some different scenarios.

If someone matches a parent on a large segment, say 20cM, and only matches the child on 2cM, fully within the parent’s segment, is this match genealogically relevant, or could the match be matching the child by chance on a part of the same segment that they match the parents by descent? We have no way to know for sure, just utilizing this tool. Hopefully, in this case, the fact that the person matches the parent on a large segment would answer any genealogical questions through triangulation.

If the person matches the parent but only matches the child on a small portion of the same segment plus an overhanging region, is that a valid match? Because they do match on an overhanging region, we know that match is partly identical by chance, but is the entire match IBC or is the overlapping part legitimate? We don’t know. Partly, how strongly I would consider this a valid match would be the size of the matching portion of the segment.

One of the purposes of phasing and then looking at matches is to, hopefully, learn more about which matches are legitimate, which are not, and predictors of false versus legitimate matches.

Relative to this tool, no editing has been done, meaning that matches are presented exactly as that, regardless of their size or the type of match. A match is a match if any portion of the match’s DNA to the child overlaps any portion of either or both parent’s DNA, with the exception of part of chromosome 6. It’s up to you, as the genealogist, to figure out by utilizing triangulation and other tools whether the match is relevant or not to your genealogy.

If you are not familiar with identical by descent (meaning a legitimate match), identical by population (IBP) meaning identical by descent but because the population as a whole carries that segment and identical by chance (IBC) meaning a false match, the article Identical by…Descent, State, Population and Chance explains the terms and the concepts so that you can apply them usefully.

About Chromosome 6

After analyzing the results of several people, the area of chromosome 6 that includes the HLA region has been excluded from the analysis. Long known to be a pileup region where people carry significant segments of the same DNA that is not genealogically relevant (meaning IBP or identical by population,) this region has found to be often unreliable genealogically, and falls outside the norm as compared to the rest of the segments. This area has been annotated separately and excluded from match results. This was the only region found to universally have this effect.

This does not mean that a match in this region is positively invalid or false, but matches in the HLA region should be viewed very skeptically.

The Results Tab – Statistics

Now that you’ve populated the spreadsheet and you can see on the Child tab which matches also match either or both parents, or neither, or the HLA region, go to the Results tab of the spreadsheet.

This tab gives you some very interesting statistics.

First, you’ll see the number and percent of matches by chromosome.

The person compared was a female, so she would have X matches to both parents. However, notice that X matching is significantly lower than any of the other chromosomes.

Frankly, I’ve suspected for a long time that there was a dramatic difference in matching with the X chromosome, and wrote about it here. It was suggested by some at the time that I was only reporting my personal observations that would not hold beyond a few results (ascertainment bias), but this proves that there is something different about X chromosome matching. I don’t know what or why, but according to this data that is consistent between all of the beta testers, matching to the X chromosome is much less reliable.

The second statistics box you will see are statistics for the matches to the child that also match the parents. The actual matches of the child to the parents are shown as the 23 shown under “excluded from calculations.”

The next group of statistics on your page will be your own, but for this example, Philip has combined the results from several beta testers and provided summary information, so that the statistics are not skewed by any one individual.

Next, the match results by segment size for chromosomes 1-22. Philip has separated out segments with less than 500 SNPs and reports them separately.

You will note that 90% or more of the segments 9 cM and above match one of the two parents, and 97% or more of segments 12cM or above.

The X chromosome follows, analyzed separately. You’ll notice that while 27% of the matches on chromosomes 1-22 match one or both parents, only 14% of the X matches do.

Even with larger segments, not all X segments match both the child and the parents, suggesting that skepticism is warranted when evaluating X chromosome matches.

Philip then calculated a nice graph for showing matching autosomal segments by cM size, excluding the X.

The next set of charts shows matches by SNP density. Many people neglect SNP count when evaluating results, but the higher the SNP count, the more robust the match.

Note that SNP density above 2,200 almost always matched, but not always, while SNP density of 2,800 reaches the 97% threshold..

The X chromosome, by SNP count, below.

X segment reach the 100% threshold about 1600, however, we really need more results to be predictive at the same level as the results for chromosomes 1-22. Two data samples really isn’t adequate.

Once again, Philip prepared a nice chart showing percentage of matching segments by SNP count, below.

Predictive

In the Segment Survival – 3 and 4 Generation Phasing article, one can see that phased matches are predictive, meaning that a child/parent match is highly suggestive that the segment is a valid segment match and that it will hold in generations further upstream.

Several years ago, Dr. Tim Janzen, one of the early phasing pioneers, suggested that people test their children, even if both parents had already tested. For the life of me, I couldn’t understand how that would be the least bit productive, genealogically, since people were more likely to match the parents than the children, and children only carry a subset of their parent’s DNA.

However, the predictive nature of a segment being legitimate with a child/parent match to a third party means that even in situations where your own parent isn’t available, a match by a third party on the same segment with your child suggests that the match is legitimate, not IBC.

In the article, I showed both 3 and 4 generations of phased comparisons between generations of the same family and a known cousin. The results of the 5 different family comparisons are shown below, where the red segments did not phase or lost phasing between generations, and the green segments did phase through multiple generations.

Very, very few segments lost phasing in upper (older) generations after matching between a parent and a child. In the five 4-generation examples above, only a total of 7 groups of segments lost phasing. The largest segment that lost phasing in upper generations was 3.69 cM. In two examples, no segments were lost due to not phasing in upper generations.

The net-net of this is that you can benefit by testing your children if your parents aren’t available, because the matches on the segment to both you and the child are most likely to be legitimate. Of course, there will be segments where someone matches you and not your child, because your child did not inherit that segment of your DNA, and those may be legitimate matches as well. However, the segments where you and your child both match the same person will likely be legitimate matches, especially over about 3.5 cM. Please read the Segment Survival article for more details.

If you want to order additional Family Finder tests for more family members, you can click here.

Group Analysis

Philip has performed a group analysis which has produced some expected results along with some surprising revelations. I’d prefer to let people get their feet wet with this tool and the results it provides before publishing the results, with one exception.

In case you’re wondering if the comparisons used as examples, above, are representative of typical results, Philip analyzed 10 of our beta testers and says the following:

The results are remarkably consistent between all 10 participants. Summing it up in words: with each person that you match you will have an average of 11 matching segments. Three will be genuine and will add to [a total of] 21 cM. Eight will be false and add to [a total of] 19 cM.

Philip compiled the following chart summarizing 10 beta testers’ results. Please note that you can click to enlarge the images.

The X, being far less consistent, is shown below.

We Still Need Endogamous Parent-Child Trios

When I asked for volunteer testers, we were not able to obtain a trio of fully endogamous individuals. Specifically, we would like to see how the statistics for groups of non-endogamous individuals compare to the statistics for endogamous individuals.

Endogamous groups include people who are 100% Jewish, Amish, Mennonite, or have a significant amount of first or second cousin marriages in recent generations.

Of these, Jewish families prove to be the most highly endogamous, so if you are Jewish and have both Jewish parents’ DNA results, please run this tool and send either Philip or me the resulting spreadsheet. Your results won’t be personally identified, only the statistics used in conjunction with others, similar to the group analysis shown above. Your results will be entirely anonymous.

Philip’s e-mail is philip.gammon@optusnet.com.au and you can reach me at roberta@dnaexplain.com.

Caveat

Philip has created the Match-Maker-Breaker tool which is free to everyone. He has included some wonderful diagnostics, but Philip is not providing individual support for the tooI. In other words, this is a “what you see is what you get” gift.

Thank You and Acknowledgements

Of course, a very big thank you to Philip for creating this tool, and also to people who volunteered as alpha and beta testers and provided feedback. Also thanks to Jim Kvochick for trying to coax Numbers into working.

Match-Maker-Breaker Author Bio:

Philip’s official tagline reads: Philip Gammon, BEng(ManSysEng) RMIT, GradDipSc(AppStatistics) Swinburne

I asked Philip to describe himself.

I’d describe myself as a business analyst with a statistics degree plus an enthusiastic genetic genealogist with an interest in the mathematical and statistical aspects of inheritance and cousinship.

The important aspect of Philip’s resume is that he is applying his skills to genetic genealogy where they can benefit everyone. Thank you so much Philip.

Watch for some upcoming guest articles from Philip.

______________________________________________________________

Disclosure

Thank you so much.

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Concepts – Segment Survival – 3 and 4 Generation Phasing

Posted on March 23, 2017 by Roberta Estes

Have you ever had something you need to refer back to and can’t find it? I do this more often than I care to admit.

About a year ago, I did a study when I was writing the “Concepts – Parental Phasing” article where I tracked segment matches from generation to generation through three generations.

I wanted to see how small versus large segments faired during the phasing process with a known relative. In other words, if a known relative matches a child and a parent on the same segment, does that known relative also match the relevant grandparent on that same segment, or is that match ”lost” in the older generation.

This first example shows the tester matching all 4 generations of the Curtis lineage.

The second example, below, shows the Tester matching only the two youngest generations, but not the Grandparent or Great-grandparent.

Obviously, the tester cannot match the child and parent without also matching the grandparent and great-grandparents, who have also tested, for the segment to be genealogically relevant, meaning passed from the common ancestor to both the tester and the descendants in the Curtis line. For the match between the tester and the parent/child to be valid, meaning the DNA descended from the common ancestor, the DNA segment MUST also be carried by the Grandparent and Great-grandmother.

If the segment matches all four people, then it phases through all generations and is a solid phased match.

If the segment matches only two contiguous generations, and not the older generation, as shown above, the segment is identical by chance in the younger generations, and is not genealogically relevant.

A third situation is clearly possible, where the tester matches the older generation or generations, but not the younger. In this case, the DNA simply did not get passed on down to the younger generations. In the example shown below, the segment still phases between the Grandparent and the Great-grandmother.

I’ve extracted the results from the original article and am showing them here, along with a 4 generation study utilizing 5 different examples.

The results are important because they were unexpected, as far as I was concerned.

Let’s take a look at the original results first.

Original Study – 3 Generations – 2 Meiosis

In the first study comparing three generations, I compared four different groups of people to a known relative in their family line. None of the family groups included any of the same people.

If the known relative matches the youngest generations, meaning the child and the parent, both, the location was colored green. This means the match phased through one generation. If the known relative also matched the third generation, the grandparent, on that same location, the location remained green. If the known relative did not match the oldest generation in addition to the child and the parent, then the location was changed to red, because the phasing was lost.

Green means that the matches did phase in all three generations and red means they either did not phase or the phasing was “lost” in the older generation. Lost, in this instance, means the DNA match never happened and it was “lost” during the analysis process.

I followed this same process for 4 separate groups of three individuals, resulting in the following distribution of matching segments through all three generations (green), versus segments that matched the younger two generations but not the older generation (red) or don’t phase at all, meaning they match only one of the two younger relatives.

I marked what appears to be a threshold with a black line.

As you can see, the phasing threshold cutoff appears to be someplace between 2.46 and 3.16 cM. These matches are through Family Tree DNA, so all SNPs will be 500 or over. In other words, almost all segments below that line phased to all three generations. Many or most segments above that line were lost in upstream generations. This means they were false matches, or identical by chance (IBC).

More segments phased to earlier generations than I expected. I was especially surprised at the number of small segments and the low threshold, so I was anxious to see if the pattern held when utilizing 4 generations which involves 3 meiosis..

New Study – 4 Generations – 3 Meiosis

In any one generation, a match can occur by chance, but once the match has phased through the parent’s generation, meaning the cousin matches the child AND the parent on the same segment, it’s easy to assume that they would, logically, match through the next two generations upwards as well. But do they? Let’s take a look.

Instead of just the summary information provided in the 3 generation study, I’m going to be showing you the three steps in the evaluation process for each example we discuss. I think it will help to answer questions, as well as to enable you to follow these same steps for your own family.

In total, I did 5 separate 4 generation comparisons, labeled as Examples 1-5, below.

Example 1 – 4 Generation – 3 Meiosis (DL)

A known cousin was compared up the tree on the relevant line through 4 generations. The relationship of the testers is shown in the chart above, with the blue arrows.

On the Curtis line, 4 individuals in descending generations were tested:

Child
Parent
Grandparent
Great-grandparent

In the Solomon line, one descendant was tested.

The results show the DNA segments that phased for 2, 3 and 4 generations, which is a total of 3 meiosis, meaning three times that the DNA was passed from generation to generation between the Great-grandparent and the Child.

The individual whose matches are tracked below is a third cousin to the Great-grandparent of the group. The relationship of the cousin to the descendants of the great-grandparent is shown below.

In reality, the distance of the cousin relationship isn’t really relevant. The relevant aspect is that the cousin DOES match all 4 relatives that tested, and we can track the segments that the cousin matches to the child, parent or grandparent back through the great-grandparent to see if they phase, meaning to see if the match is legitimate or not. In other words, was the segment passed from the Great-grandparent to the Grandparent to the Parent to the Child?

This first chart shows the cousin’s matches to all 4 of the family members. I’ve colored them green if they have phased matches, meaning adjacent generations on the same segment. In the comment column, I’ve explained what you are seeing.

This chart is a little more complex than previously, because we are dealing with 4 generations instead of 3. Therefore, I’m showing the cousin’s matches to all 4 individuals.

For a location to have no color and be labeled “No Phased Match” means that there was a match to one family member, but not to the adjacent generation upstream, so it’s not a genealogically relevant match. In other words, it’s a false match.
For a location to have no color and be labeled “Oldest Gen Only” means that the cousin matches the great-grandmother only. Those matches may be genealogically relevant, but because we don’t have a generation upstream of her, we can’t phase them and can’t tell if they are relevant or not based only on the information we have here. Obviously you’ll want to evaluate each match individually to see if it is a legitimate or false match using additional criteria.
For a location to be colored green, it must phase entirely for all the generations from where it begins upwards in the tree. For some matches, that means all 4 generations. Some matches that do phase only phase for 2 or 3 generations, meaning that the segment did not get passed on to younger generations. The two shades of green are only to differentiate the match groups when they are adjacent on the spreadsheet.
If the cell is green and says “4 Gen Match,” it means that the match appeared in all 4 generations and matched (or at least overlapped.)
If the cell is green and says “3 Gen Match,” it means that the match appeared in the oldest 3 generations and matched. The match did NOT appear in the child’s generation, so what we know about this segment is that it did not get passed to the child, but in the three generations in which it does appear, it phased.
If the cell is green and says “2 Gen Match,” it means that it appeared in the oldest two generations and phased, but did NOT get passed to the parent, so it could not have been passed to the child.
Matches to any single generation (but not the immediate upstream generation) are labeled “No Phased Match.”
If the cell is red and says “Lost Phasing” it means that the segment phased in at least two generations but did NOT match the adjacent generation upstream. Therefore, this is an example of a segment that did phase in one generation, but that was actually identical by chance (IBC) further upstream. In the case of the red segments above, they phased in all three of the younger generations, only to become irrelevant in the oldest generation when the tester did not match the Great-grandmother.

Now, looking at the same segment chart sorted by centiMorgan size.

Sorted by centiMorgan size gives you the opportunity to note that the larger segments are much more likely to phase, when given the opportunity. Translated, this means they are much more likely to be legitimate segments.

Formatted in the same way as the 3 generation groups, we see the following chart of only the segments, with the matches that were to the oldest generation only removed because they did not have the opportunity to phase. What we have below are the results for the matches that did have the opportunity to phase:

Green means the segment did phase
Red Means the segment did not phase and/or lost phasing.
White rows that did NOT phase are red above, along with rows that lost phasing.
White rows that are labeled “Oldest Gen Only” were removed because they are the oldest generation and did not have the opportunity to phase with an older generation.
For details, refer to the original charts, above.

Example 2 – 4 Generation – 3 Meiosis (CF-SV)

A second 4 generation comparison with a first cousin to the Great-grandmother results in more matches due to the closeness of the relationship, yielding additional information.

The 4 individuals in this and the following 3 examples are related in the following fashion:

Child 1 and Child 2 are siblings and Cousin 1 and Cousin 2 are siblings.

The two cousins are first cousins to the great-grandmother, so related to the matching individuals in the following fashion:

Because first cousins are significantly closer than third cousins, we have a lot more matching segments to work with.

It’s worth noting in the above chart that the two groups colored with gold in the right column both look like they phase, but when you look at the relationships of the people involved, you quickly realize that an intermediate generation is missing.

In the first example, the Grandparent and Great-grandmother do phase, but the child does not, because the cousin doesn’t also match the parent on that segment, so the parent could NOT have passed that segment to the child. Therefore, the child does not phase.

In the second example, the cousin matches the Parent and Great-Grandmother, but the parent is missing in the match sequence, so these people don’t phase at all.

Sorted by centiMorgan size, we see the following.

Formatted by phased segment size, where red means did not phase or lost phasing and green means phased, we see the following pattern emerge.

Example 3 – 4 Generation – 3 Meiosis (CF-PV)

The next comparison is the still Cousin 1 but compared to Child 2.

In this case, three segments lost phasing when compared to older generations. They look like they phased when comparing the cousin to the Parent and Child, but we know they don’t because they don’t match the Grandparent, the next adjacent generation upstream.

Sorted by centiMorgan size, we see the following:

It’s interesting that all of the segments that lost phasing were quite small.

Formatted by segment size where red equals segments that did not phase or lost phasing and green equals segments that did phase.

Example 4 – 4 Generations – 3 Meiosis (DF-SV)

The fourth example utilizes Cousin 2 and Child 1.

In this comparison, no segments lost phasing, so there are no red segments.

Sorted by centiMorgan size, above and phased versus unphased segments, below.

Example 5 – 4 Generations – 3 Meiosis (DF-PV)

This last example utilizes the results of Cousin 2 matching to Child 2.

Again we have a group identified by gold in the last column that looks like a phased group if you’re just looking at the chromosome start and end locations, until you notice that the Grandparent is missing. The Parent and Child do share an overlapping segment mathematically, and it appears that this is part of the Great-grandmother’s segment, but it isn’t because the segment did not pass through the Grandparent. Of course, there is always a small possibility that there is a read issue with the grandparent’s file in this location, but as it stands, the parent and child’s matching segment loses phasing because it does not phase to the grandparent.

Again, three segments lost phasing.

Above, the spreadsheet sorted by centiMorgan value and below, by phased and unphased segments.

Side By Side Comparison

This side by side comparison shows the 5 different comparisons of 4 generations and 3 meiosis.

The pattern looks very similar and is almost identical in terms of the threshold to the original 3 generation study. The 3 gen study thresholds varied from 2.46 to 3,16. The largest 3 generation unphased segments were 3.36, 4.16, 4.75 and 6.05.

This suggests that your results with a 3 generation study are probably nearly just as reliable as a 4 generation study, although we did see one instance where phasing was lost after three matching generations. However, evaluating that match itself reveals that it was certainly highly questionable with the Parent carrying more of the “matching” segment to the Child than the Grandparent carried. While it was technically a 3 generation match before losing phasing, it wasn’t a solid match by any means.

With more test data, this could also mean that off-shifted matches or questionable matches are more likely to not phase or fail in higher generations. I wrote here about methodologies for determining legitimate and false matches.

Discussion

I assembled a summary of the pertinent information from the five different 4 generation charts.

As expected, very small segments often did not phase. However, around the 3.5 cM region, they began to phase and reliably so. However, some larger segments, one as large as 7.13, did not phase.
It appears from the small number of segments that lost phasing that most of the time, if a segment does phase with the next generation upstream, it’s a valid segment and will continue to phase upwards.
Occasionally, phased segments are not valid and fail a “test” further up the tree. These are the segments that “lost phasing.”
The segments that did lose phasing were smaller segments with the largest at 3.68 cM.
Phasing, even in small segments, seems to be a relatively good predictor of a segment that is identical by descent, as determined by continuing to match ancestral segments on up the tree.

Of course, additional matches with cousins on the same segments would strengthen the argument as well, with or without phasing. Genetic genealogists are always looking for more information and ways to strengthen our evidence of connections with our cousins and family members. After all, that’s how we positively identify segments attributable to specific ancestors.

Testing Your Own Family

If you have either 3 or 4 individuals in descending generations, you can reproduce these same kinds of results for yourself. It’s actually easy and you can use the charts, methodology and color coding above as a guide.

You will need a relative that matches on the side of the oldest generation. In this case, the relatives were cousins of the great-grandmother. The relative will need to match the other two or three downstream people as well, meaning the direct descendants of the oldest relative. By copying the cousin’s entire match list from the Family Finder chromosome browser, you will be able to delete all matches other than to the people in your family group and compare the results using the same methodology I have shown.

If you don’t have access to the cousin’s match list, you can copy the matches to the cousin from the family member’s match lists and combine them into one spreadsheet. The outcome is the same, but it’s easier if you have access to the cousin’s matches because you only have to download one file instead of 4.

What Can I Do With This Information?

Based on identifying segments as legitimate or false matches, you can label your DNA Master Spreadsheet with the information you’ve gleaned from the process. I’ve done that with just phasing to my mother. Studies such as this give me confidence that the larger phased segments with my mother are legitimate; even some segments below 5 cM and as low as 3.5 cM that DO phase.

These results and this article is NOT a suggestion that people should assume that ALL smaller segment matches are legitimate, because they aren’t. These studies are attempts to figure out HOW to discern which segments are valid and how to go about that process, including small segments. We now have three tools that can be utilized either together or individually:

Parental phasing
Multi-generation phasing, utilizing the parental phasing tools
Cousin Matching to phased segments, which is what we did in this article
Family Tree DNA‘s Family Phasing which in essence does this sort of matching for you, labeling your matches as to the side they descend from.

From the phasing information we’ve discovered, it appears that most segments below 3.5 cM aren’t going to phase and the majority are NOT legitimate matches.

This is a limited study. Additional information could change and would certainly add to this information.

More is Better

As always, more data is always better. Additional examples of results using this same phasing/cousin matching technique would allow quantification of the reliability of phased results as compared to unphased results. In other words we know already that phased results are much better and more reliable than unphased results, but how much more and what are the functional limits of phased results?

There really is no question about the reliability of phased results in regard to larger segments, but additional information would help immensely in understanding how to successfully utilize smaller phased segments, in the range of 3.5 to 8 cM.

I would also suspect that in endogamous families, the thresholds observed here will move, probably with the phasing threshold moving even lower. People from fully endogamous cultures have many legitimate common small segments from sharing ancient ancestors. It would be interesting to observe the effects of endogamy on the observations made here.

I’m not Jewish and don’t have access to Jewish family information, but if several Jewish readers have tested multi-generational family and have a cousin from that side to test against, I would be glad to publish a followup article similar to this one with endogamous information.

It’s so exciting to be on the forefront of this wonderful genetic genealogy frontier together and to be able to experiment and learn.

I hope you use this methodology to explore, have fun and discover new information about your family.

______________________________________________________________

Disclosure

Thank you so much.

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Concepts – Segment Size, Legitimate and False Matches

Posted on January 19, 2017 by Roberta Estes

Matchmaker, matchmaker, make me a match!

One of the questions I often receive about autosomal DNA is, “What, EXACTLY, is a match?” The answer at first glance seems evident, meaning when you and someone else are shown on each other’s match lists, but it really isn’t that simple.

What I’d like to discuss today is what actually constitutes a match – and the difference between legitimate or real matches and false matches, also called false positives.

Let’s look at a few definitions before we go any further.

Definitions

A Match – when you and another person are found on each other’s match lists at a testing vendor. You may match that person on one or more segments of DNA.
Matching Segment – when a particular segment of DNA on a particular chromosome matches to another person. You may have multiple segment matches with someone, if they are closely related, or only one segment match if they are more distantly related.
False Match – also known as a false positive match. This occurs when you match someone that is not identical by descent (IBD), but identical by chance (IBC), meaning that your DNA and theirs just happened to match, as a happenstance function of your mother and father’s DNA aligning in such a way that you match the other person, but neither your mother or father match that person on that segment.
Legitimate Match – meaning a match that is a result of the DNA that you inherited from one of your parents. This is the opposite of a false positive match. Legitimate matches are identical by descent (IBD.) Some IBD matches are considered to be identical by population, (IBP) because they are a result of a particular DNA segment being present in a significant portion of a given population from which you and your match both descend. Ideally, legitimate matches are not IBP and are instead indicative of a more recent genealogical ancestor that can (potentially) be identified.

You can read about Identical by Descent and Identical by Chance here.

Endogamy – an occurrence in which people intermarry repeatedly with others in a closed community, effectively passing the same DNA around and around in descendants without introducing different/new DNA from non-related individuals. People from endogamous communities, such as Jewish and Amish groups, will share more DNA and more small segments of DNA than people who are not from endogamous communities. Fully endogamous individuals have about three times as many autosomal matches as non-endogamous individuals.
False Negative Match – a situation where someone doesn’t match that should. False negatives are very difficult to discern. We most often see them when a match is hovering at a match threshold and by lowing the threshold slightly, the match is then exposed. False negative segments can sometimes be detected when comparing DNA of close relatives and can be caused by read errors that break a segment in two, resulting in two segments that are too small to be reported individually as a match. False negatives can also be caused by population phasing which strips out segments that are deemed to be “too matchy” by Ancestry’s Timber algorithm.
Parental or Family Phasing – utilizing the DNA of your parents or other close family members to determine which side of the family a match derives from. Actual phasing means to determine which parts of your DNA come from which parent by comparing your DNA to at least one, if not both parents. The results of phasing are that we can identify matches to family groups such as the Phased Family Finder results at Family Tree DNA that designate matches as maternal or paternal based on phased results for you and family members, up to third cousins.
Population Based Phasing – In another context, phasing can refer to academic phasing where some DNA that is population based is removed from an individual’s results before matching to others. Ancestry does this with their Timber program, effectively segmenting results and sometimes removing valid IBD segments. This is not the type of phasing that we will be referring to in this article and parental/family phasing should not be confused with population/academic phasing.

IBD and IBC Match Examples

It’s important to understand the definitions of Identical by Descent and Identical by Chance.

I’ve created some easy examples.

Let’s say that a match is defined as any 10 DNA locations in a row that match. To keep this comparison simple, I’m only showing 10 locations.

In the examples below, you are the first person, on the left, and your DNA strands are showing. You have a pink strand that you inherited from Mom and a blue strand inherited from Dad. Mom’s 10 locations are all filled with A and Dad’s locations are all filled with T. Unfortunately, Mother Nature doesn’t keep your Mom’s and Dad’s strands on one side or the other, so their DNA is mixed together in you. In other words, you can’t tell which parts of your DNA are whose. However, for our example, we’re keeping them separate because it’s easier to understand that way.

Legitimate Match – Identical by Descent from Mother

In the example above, Person B, your match, has all As. They will match you and your mother, both, meaning the match between you and person B is identical by descent. This means you match them because you inherited the matching DNA from your mother. The matching DNA is bordered in black.

Legitimate Match – Identical by Descent from Father

In this second example, Person C has all T’s and matches both you and your Dad, meaning the match is identical by descent from your father’s side.

You can clearly see that you can have two different people match you on the same exact segment location, but not match each other. Person B and Person C both match you on the same location, but they very clearly do not match each other because Person B carries your mother’s DNA and Person C carries your father’s DNA. These three people (you, Person B and Person C) do NOT triangulate, because B and C do not match each other. The article, “Concepts – Match Groups and Triangulation” provides more details on triangulation.

Triangulation is how we prove that individuals descend from a common ancestor.

If Person B and Person C both descended from your mother’s side and matched you, then they would both carry all As in those locations, and they would match you, your mother and each other. In this case, they would triangulate with you and your mother.

False Positive or Identical by Chance Match

This third example shows that Person D does technically match you, because they have all As and Ts, but they match you by zigzagging back and forth between your Mom’s and Dad’s DNA strands. Of course, there is no way for you to know this without matching Person D against both of your parents to see if they match either parent. If your match does not match either parent, the match is a false positive, meaning it is not a legitimate match. The match is identical by chance (IBC.)

One clue as to whether a match is IBC or IBD, even without your parents, is whether the person matches you and other close relatives on this same segment. If not, then the match may be IBC. If the match also matches close relatives on this segment, then the match is very likely IBD. Of course, the segment size matters too, which we’ll discuss momentarily.

If a person triangulates with 2 or more relatives who descend from the same ancestor, then the match is identical by descent, and not identical by chance.

False Negative Match

This last example shows a false negative. The DNA of Person E had a read error at location 5, meaning that there are not 10 locations in a row that match. This causes you and Person E to NOT be shown as a match, creating a false negative situation, because you actually do match if Person E hadn’t had the read error.

Of course, false negatives are by definition very hard to identify, because you can’t see them.

Comparisons to Your Parents

Legitimate matches will phase to your parents – meaning that you will match Person B on the same amount of a specific segment, or a smaller portion of that segment, as one of your parents.

False matches mean that you match the person, but neither of your parents matches that person, meaning that the segment in question is identical by chance, not by descent.

Comparing your matches to both of your parents is the easiest litmus paper test of whether your matches are legitimate or not. Of course, the caveat is that you must have both of your parents available to fully phase your results.

Many of us don’t have both parents available to test, so let’s take a look at how often false positive matches really do occur.

False Positive Matches

How often do false matches really happen?

The answer to that question depends on the size of the segments you are comparing.

Very small segments, say at 1cM, are very likely to match randomly, because they are so small. You can read more about SNPs and centiMorgans (cM) here.

As a rule of thumb, the larger the matching segment as measured in cM, with more SNPs in that segment:

The stronger the match is considered to be
The more likely the match is to be IBD and not IBC
The closer in time the common ancestor, facilitating the identification of said ancestor

Just in case we forget sometimes, identifying ancestors IS the purpose of genetic genealogy, although it seems like we sometimes get all geeked out by the science itself and process of matching! (I can hear you thinking, “speak for yourself, Roberta.”)

It’s Just a Phase!!!

Let’s look at an example of phasing a child’s matches against those of their parents.

In our example, we have a non-endogamous female child (so they inherit an X chromosome from both parents) whose matches are being compared to her parents.

I’m utilizing files from Family Tree DNA. Ancestry does not provide segment data, so Ancestry files can’t be used. At 23andMe, coordinating the security surrounding 3 individuals results and trying to make sure that the child and both parents all have access to the same individuals through sharing would be a nightmare, so the only vendor’s results you can reasonably utilize for phasing is Family Tree DNA.

You can download the matches for each person by chromosome segment by selecting the chromosome browser and the “Download All Matches to Excel (CSV Format)” at the top right above chromosome 1.

All segment matches 1cM and above will be downloaded into a CSV file, which I then save as an Excel spreadsheet.

I downloaded the files for both parents and the child. I deleted segments below 3cM.

About 75% of the rows in the files were segments below 3cM. In part, I deleted these segments due to the sheer size and the fact that the segment matching was a manual process. In part, I did this because I already knew that segments below 3 cM weren’t terribly useful.

Rows	Father	Mother	Child
Total	26,887	20,395	23,681
< 3 cM removed	20,461	15,025	17,784
Total Processed	6,426	5,370	5,897

Because I have the ability to phase these matches against both parents, I wanted to see how many of the matches in each category were indeed legitimate matches and how many were false positives, meaning identical by chance.

How does one go about doing that, exactly?

Downloading the Files

Let’s talk about how to make this process easy, at least as easy as possible.

Step one is downloading the chromosome browser matches for all 3 individuals, the child and both parents.

First, I downloaded the child’s chromosome browser match file and opened the spreadsheet.

Second, I downloaded the mother’s file, colored all of her rows pink, then appended the mother’s rows into the child’s spreadsheet.

Third, I did the same with the father’s file, coloring his rows blue.

After I had all three files in one spreadsheet, I sorted the columns by segment size and removed the segments below 3cM.

Next, I sorted the remaining items on the spreadsheet, in order, by column, as follows:

End
Start
Chromosome
Matchname

My resulting spreadsheet looked like this. Sorting in the order prescribed provides you with the matches to each person in chromosome and segment order, facilitating easy (OK, relatively easy) visual comparison for matching segments.

I then colored all of the child’s NON-matching segments green so that I could see (and eventually filter the matchname column by) the green color indicating that they were NOT matches. Do this only for the child, or the white (non-colored) rows. The child’s matchname only gets colored green if there is no corresponding match to a parent for that same person on that same chromosome segment.

All of the child’s matches that DON’T have a corresponding parent match in pink or blue for that same person on that same segment will be colored green. I’ve boxed the matches so you can see that they do match, and that they aren’t colored green.

In the above example, Donald and Gaff don’t match either parent, so they are all green. Mess does match the father on some segments, so those segments are boxed, but the rest of Mess doesn’t match a parent, so is colored green. Sarah doesn’t match any parent, so she is entirely green.

Yes, you do manually have to go through every row on this combined spreadsheet.

If you’re going to phase your matches against your parent or parents, you’ll want to know what to expect. Just because you’ve seen one match does not mean you’ve seen them all.

What is a Match?

So, finally, the answer to the original question, “What is a Match?” Yes, I know this was the long way around the block.

In the exercise above, we weren’t evaluating matches, we were just determining whether or not the child’s match also matched the parent on the same segment, but sometimes it’s not clear whether they do or do not match.

In the case of the second match with Mess on chromosome 11, above, the starting and ending locations, and the number of cM and segments are exactly the same, so it’s easy to determine that Mess matches both the child and the father on chromosome 11. All matches aren’t so straightforward.

Typical Match

This looks like your typical match for one person, in this case, Cecelia. The child (white rows) matches Cecelia on three segments that don’t also match the child’s mother (pink rows.) Those non-matching child’s rows are colored green in the match column. The child matches Cecelia on two segments that also match the mother, on chromosome 20 and the X chromosome. Those matching segments are boxed in black.

The segments in both of these matches have exact overlaps, meaning they start and end in exactly the same location, but that’s not always the case.

And for the record, matches that begin and/or end in the same location are NOT more likely to be legitimate matches than those that start and end in different locations. Vendors use small buckets for matching, and if you fall into any part of the bucket, even if your match doesn’t entirely fill the bucket, the bucket is considered occupied. So what you’re seeing are the “fuzzy” bucket boundaries.

(Over)Hanging Chad

In this case, Chad’s match overhangs on each end. You can see that Chad’s match to the child begins at 52,722,923 before the mother’s match at 53,176,407.

At the end location, the child’s matching segment also extends beyond the mother’s, meaning the child matches Chad on a longer segment than the mother. This means that the segment sections before 53,176,407 and after 61,495,890 are false negative matches, because Chad does not also match the child’s mother of these portions of the segment.

This segment still counts as a match though, because on the majority of the segment, Chad does match both the child and the mother.

Nested Match

This example shows a nested match, where the parent’s match to Randy begins before the child’s and ends after the child’s, meaning that the child’s matching DNA segment to Randy is entirely nested within the mother’s. In other words, pieces got shaved off of both ends of this segment when the child was inheriting from her mother.

No Common Matches

Sometimes, the child and the parent will both match the same person, but there are no common segments. Don’t read more into this than what it is. The child’s matches to Mary are false matches. We have no way to judge the mother’s matches, except for segment size probability, which we’ll discuss shortly.

Look Ma, No Parents

In this case, the child matches Don on 5 segments, including a reasonably large segment on chromosome 9, but there are no matches between Don and either parent. I went back and looked at this to be sure I hadn’t missed something.

This could, possibly, be an instance of an unseen a false negative, meaning perhaps there is a read issue in the parent’s file on chromosome 9, precluding a match. However, in this case, since Family Tree DNA does report matches down to 1cM, it would have to be an awfully large read error for that to occur. Family Tree DNA does have quality control standards in place and each file must pass the quality threshold to be put into the matching data base. So, in this case, I doubt that the problem is a false negative.

Just because there are multiple IBC matches to Don doesn’t mean any of those are incorrect. It’s just the way that the DNA is inherited and it’s why this type of a match is called identical by chance – the key word being chance.

Split Match

This split match is very interesting. If you look closely, you’ll notice that Diane matches Mom on the entire segment on chromosome 12, but the child’s match is broken into two. However, the number of SNPs adds up to the same, and the number of cM is close. This suggests that there is a read error in the child’s file forcing the child’s match to Diane into two pieces.

If the segments broken apart were smaller, under the match threshold, and there were no other higher matches on other segments, this match would not be shown and would fall into the False Negative category. However, since that’s not the case, it’s a legitimate match and just falls into the “interesting” category.

The Deceptive Match

Don’t be fooled by seeing a family name in the match column and deciding it’s a legitimate match. Harrold is a family surname and Mr. Harrold does not match either of the child’s parents, on any segment. So not a legitimate match, no matter how much you want it to be!

Suspicious Match – Probably not Real

This technically is a match, because part of the DNA that Daryl matches between Mom and the child does overlap, from 111,236,840 to 113,275,838. However, if you look at the entire match, you’ll notice that not a lot of that segment overlaps, and the number of cMs is already low in the child’s match. There is no way to calculate the number of cMs and SNPs in the overlapping part of the segment, but suffice it to say that it’s smaller, and probably substantially smaller, than the 3.32 total match for the child.

It’s up to you whether you actually count this as a match or not. I just hope this isn’t one of those matches you REALLY need. However, in this case, the Mom’s match at 15.46 cM is 99% likely to be a legitimate match, so you really don’t need the child’s match at all!!!

So, Judge Judy, What’s the Verdict?

How did our parental phasing turn out? What did we learn? How many segments matched both the child and a parent, and how many were false matches?

In each cM Size category below, I’ve included the total number of child’s match rows found in that category, the number of parent/child matches, the percent of parent/child matches, the number of matches to the child that did NOT match the parent, and the percent of non-matches. A non-match means a false match.

So, what the verdict?

It’s interesting to note that we just approach the 50% mark for phased matches in the 7-7.99 cM bracket.

The bracket just beneath that, 6-6.99 shows only a 30% parent/child match rate, as does 5-5.99. At 3 cM and 4 cM few matches phase to the parents, but some do, and could potentially be useful in groups of people descended from a known common ancestor and in conjunction with larger matches on other segments. Certainly segments at 3 cM and 4 cM alone aren’t very reliable or useful, but that doesn’t mean they couldn’t potentially be used in other contexts, nor are they always wrong. The smaller the segment, the less confidence we can have based on that segment alone, at least below 9-15cM.

Above the 50% match level, we quickly reach the 90^th percentile in the 9-9.99 cM bracket, and above 10 cM, we’re virtually assured of a phased match, but not quite 100% of the time.

It isn’t until we reach the 16cM category that we actually reach the 100% bracket, and there is still an outlier found in the 18-18.99 cM group.

I went back and checked all of the 10 cM and over non-matches to verify that I had not made an error. If I made errors, they were likely counting too many as NON-matches, and not the reverse, meaning I failed to visually identify matches. However, with almost 6000 spreadsheet rows for the child, a few errors wouldn’t affect the totals significantly or even noticeably.

I hope that other people in non-endogamous populations will do the same type of double parent phasing and report on their results in the same type of format. This experiment took about 2 days.

Furthermore, I would love to see this same type of experiment for endogamous families as well.

Summary

If you can phase your matches to either or both of your parents, absolutely, do. This this exercise shows why, if you have only one parent to match against, you can’t just assume that anyone who doesn’t match you on your one parent’s side automatically matches you from the other parent. At least, not below about 15 cM.

Whether you can phase against your parent or not, this exercise should help you analyze your segment matches with an eye towards determining whether or not they are valid, and what different kinds of matches mean to your genealogy.

If nothing else, at least we can quantify the relatively likelihood, based on the size of the matching segment, in a non-endogamous population, a match would match a parent, if we had one to match against, meaning that they are a legitimate match. Did you get all that?

In a nutshell, we can look at the Parent/Child Phased Match Chart produced by this exercise and say that our 8.5 cM match has about a 66% chance of being a legitimate match, and our 10.5 cM match has a 95% change of being a legitimate match.

You’re welcome.

Enjoy!!

______________________________________________________________

Disclosure

Thank you so much.

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2016 Genetic Genealogy Retrospective

Posted on December 31, 2016 by Roberta Estes

In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions. I think genetic genealogy is maturing and has perhaps begun a new chapter. Let’s take a look.

Vendors

Family Tree DNA

Family Tree DNA leads the pack this year with their new Phased Family Matches which utilizes close relatives, up to third cousins, to assign your matches to either maternal or paternal buckets, or both if the individual is related on both sides of your tree.

They are the first and remain the only vendor to offer this kind of feature.

Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members. DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture. Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group. This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch. Family Tree DNA is working on a resolution to this problem.

I tested on the new Ancestry V2 chip, and while there is a difference in how much matching DNA I share with my matches as compared to the V1 chip, it’s not as pronounced as I expected. There is no need for people who tested on the earlier chip to retest.

Unfortunately, Ancestry has remained steadfast in their refusal to implement a chromosome browser, instead focusing on sales by advertising the ethnicity “self-discovery” aspect of DNA testing.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees. In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate. It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site. This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription. Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

For the record, I have 28 matches today at MyHeritage.

I found that my second closest match at MyHeritage is also at Ancestry.

At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5^th to 8^th cousin, and MyHeritage estimates it as 2^nd to 4^th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files. They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison. Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed. No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry. MyHeritage also owns Geni.com. One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model. For a comparison of the two, check out Judy Russell’s articles, here and here. Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is. Let’s hope that 2017 brings both clarity and improvements.

Living DNA

Living DNA is a company out of the British Isles with a new test that purports to provide you with a breakdown of your ethnicity and the locations of your ancestral lines within 21 regions in the British Isles. Truthfully, I’m very skeptical, but open minded.

They have had my kit for several weeks now, and testing has yet to begin. I’ll write about the results when I receive them. So far, I don’t know of anyone who has received results.

Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

That’s a vastly different model that the current approach taken by 23andMe and Ancestry where you relinquish your rights to the sale of your DNA when you sign up to test. I like this new approach with complete transparency, allowing the customer to decide the fate of their DNA. I wrote about the Genos test and the results, here.

Third Parties

Individuals sometimes create and introduce new tools to assist genealogists with genetic genealogy and analysis.

I have covered these extensively over the years.

GedMatch, WikiTree, DNAGedcom.com and Kitty Cooper’s tools remain my favorites.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes. Somehow, this makes me feel closer to them. They’re not really gone, because they still exist in me and other descendants as well.

In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name. Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half. These phased kits allow you to see your matches that come from that parent, only. However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.” In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings. While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree. While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article, Putting DNA Results Into Action, for how to utilize their DNA Features.

Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts. WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools. DNAGedcom does as well. Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure. Websites and everything that goes along with them aren’t free. Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity. Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same. Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet. For example, DNA testing is illegal in France. Not to mention, genetic genealogy and population genetics is still a new and emerging field. We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc. Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?” They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids. Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more. Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

Of course, the “Help” link is always a good place to start as are these articles, DNA Testing for Genealogy 101 and Autosomal DNA Testing 101. These two articles should be “must reads” for everyone who has DNA tested, or wants to, for that matter. Tips and Tricks for Contact Success is another article that is immensely helpful to people just beginning to reach out.

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

My blog isn’t the only resource of course.

Kelly Wheaton provides 19 free lessons in her Beginners Guide to Genetic Genealogy.

Other blogs I highly recommend include:

Judy Russell’s The Legal Genealogist
Jim Bartlett’s www.segmentology.org
Kitty Cooper’s blog
Blaine Bettinger’s The Genetic Genealogist

Excellent books in print that should be in every genetic genealogist’s library:

The Basics and Beyond by Emily Aulicino
NextGen Genealogy: The DNA Connection by David Dowell
Genetic Genealogy in Practice by Blaine Bettinger and Debbie Parker Wayne

And of course, the ISOGG Wiki.

Online Conference Resources

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up. Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource. Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time! A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised! This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13^th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Genetic genealogy is and can only be a collaborative team sport.

Here’s wishing you many new cousins and discoveries in 2017.

Happy New Year!!!

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Disclosure

Thank you so much.

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