Y DNA: Part 1 – Overview

This is Part 1 of a series about Y DNA and how to use it successfully for genealogy.

If you’re in need of a brief DNA testing overview, please read 4 Kinds of DNA for Genetic Genealogy.

Y DNA testing has so much to offer. In this overview article, I’m touching briefly on each of the major functions and features of Y DNA testing. Following articles in this series will focus on how to utilize each tool for genealogy and harvesting every snippet of information available.

If you have Y DNA results, you can sign on to your account at Family Tree DNA and follow along. Throughout these articles, we’ll step through every tab and function, how to use them, and what they mean to you.

What is Y DNA and Why Do I Care?

Y DNA is what makes males, well, male.

The 23rd pair of human chromosomes consists of an X and a Y chromosome.

Female children inherit an X from both parents.

Male children inherit an X chromosome from their mother, but a Y from their father.

Generally, the Y chromosome follows the male surname line, so Estes males pass their Estes Y chromosome to their sons.

When adoptions occur, of course the surname of record does not match the biological surname associated with the Y chromosome – which is exactly why male adoptees take Y DNA tests.

Inheritance Path

In the example below, you can see that the light blue Y chromosome is passed from father to son to son to son to the male child in the current generation.

Y overview inheritance path

Click to enlarge

The dark blue maternal great-grandfather in this example also passes his Y chromosome to his son, but it stops there since the next generation in this tree is a female.

The light blue son at the bottom inherits a Y chromosome from his father, from ancestors all the way up that light blue line – along with his surname. The daughter doesn’t receive a Y chromosome nor do any females.

If you’re a male, you can test your own Y DNA of course.

If you’re a female, like the daughter, above, you must find a male in the line you seek to test. In this case, the brother, father, grandfather, paternal uncles and so forth represent her father’s Y DNA.

If you want information from any of the Y chromosome lineages in this chart that you don’t personally carry, you must find a male descended directly patrilineally from that line to test. It’s generally fairly easy to identify those people, because they will also carry the relevant surname. There are several examples in the article, Concepts – Who to Test for Your Father’s DNA.

Every Y DNA line has its own unique story for genealogists to harvest – assuming we can find an appropriate candidate for testing or find someone who has already tested. We’ll talk about how to see if your line may have already tested in the Projects section later in this article.

Why Y DNA Works

Y DNA is inherited from the patrilineal line directly. Unlike autosomal DNA, there is no genetic contribution from any females.

This uniquely male inheritance path allows us to use Y DNA for matching to other males beginning with the first generation, the father, then reaching back many generations providing a way to view our ancestral heritage beyond the line-in-the-sand boundary of surnames.

In other words, because Y DNA is not mixed with any DNA from the mothers, it’s very nearly identical to our patrilineal ancestors’ Y DNA – meaning it matches that of the father, and grandfather, reaching back many generations.

Some people, especially new autosomal testers, believe that Y DNA is ONLY useful for deep ancestry and not for genealogy. That’s ENTIRELY mistaken. Y DNA is extremely important in confirming descent from known ancestors. In fact, without Y DNA, you can’t tell the difference with autosomal testing between a child born to a male and a child born to the female of a couple. I wrote about that hereNo one wants to spend years barking up the wrong tree.

Y DNA testing is also the single best way to push the Y DNA genealogy back further in time. It can and does identify the geographic source, overseas, of the DNA lineage, through matches to other testers as well as haplogroup matches. These are things autosomal DNA simply cannot accomplish.

In fact, Y DNA did exactly that for my own Speak(es) line, connecting us genetically to the Speak family from Downham, Lancashire, England which then facilitated discovering the actual baptism document of our immigrant ancestor. Finding our English geographic source had eluded researchers for decades. A year later, a group of 20+ descendants visited Downham and stood in that very church.

Speak Family at St Mary Whalley

There simply is no better success story.

Migration Path Identified

Not only can Y DNA confirm recent ancestors and find ones more distant, by tracing a series of mutations, we can track our ancestor over time beginning with Y Line Adam, born in Africa tens of thousands of years ago to that church in an ancestral country and then to where we are today.

Y overview migration path.png

Mutations Happen

If mutations never occurred, the Y DNA of all males would be identical and therefore not useful for us to use for genealogy or to peer back in time beyond the advent of surnames.

Mutations do occur, just not on any schedule. This means that it’s difficult to predict how long ago we shared a common ancestor with someone else based solely on Y DNA mutations – although some types of mutations are better predictors than others.

A mutation might occur between a male and his father, or there might be no mutations for hundreds or even, potentially, thousands of years – depending on the marker type.

For example, in the Estes DNA project, one group of men have no STR (short tandem repeat) mutations in 8 generations. Others have several in the same number of generations.

Part of the success of matching genealogically with Y DNA testing has to do with:

  • The type of markers tested
  • The number of markers tested – testing fewer marker locations results in matches that are much less specific and therefore less relevant.
  • The luck of whether anyone else from your line has tested

The best results are between men who have taken the Big Y-700 test which provides for the largest number of STR markers and all SNPs (single nucleotide polymorphisms) , both previously known and discovered individually during that person’s Big Y test result.

Let’s take a look at the two different kinds of Y DNA markers and their mutations.

Two Kinds of Mutations

Y DNA can be tested for two different kinds of mutations, STR (short tandem repeat) markers and SNPs (single nucleotide polymorphisms.)

All DNA is comprised of four different nucleotides, abbreviated by A, C, G and T.

  1. A=adenine
  2. C=cytosine
  3. G=guanine
  4. T=thymine

When mutations take place, they can take the form of three types of mutations:

  • A deletion occurs when a nucleotide, or multiple nucleotides, fail to copy during reproduction. Therefore, that location or locations are then blank, with no DNA at that location permanently.
  • A replacement occurs when a nucleotide is replaced or swapped out with a different nucleotide. For example, an A could be replaced with one of the other nucleotides, and so forth.
  • An insertion occurs when a nucleotide or a group of nucleotides is duplicated and inserted between existing nucleotides.

Let’s look at how this actually works.

Indel example 1

Here’s an example segment of DNA.

A deletion would occur if the leading A (or a series of nucleotides) were simply gone.

Indel example 3

A replacement would occur if the first A above were to change to T or G or C as in the example below:

Indel example 2

A replacement is a SNP mutation.

An insertion would be where DNA is inserted between existing nucleotide locations.

STR example

Note the extra red CTs that have been inserted. Specifically, 4 extra CTs, for a total of 5 sets of CT. This is the definition of a STR, a short tandem repeat mutation.

STR markers, known as short tandem repeats, accrue what are similar to copy machine errors. This occurs when a specific segment of Y DNA gets repeated several times in a row. In other words, the copy machine gets stuck.

STR Markers

We purchase STR Y DNA tests from Family Tree DNA grouped into panels that include a specific number of markers.

Y overview STR results

Example of 37 marker results – click to enlarge

These panels consist of the following number of marker locations:

  • 12 markers (now obsolete)
  • 25 markers (now obsolete)
  • 37 markers
  • 67 markers (replaced by 111)
  • 111 markers
  • 500 markers bundled as part of the now-obsolete Big Y-500
  • 700 markers bundled with the Big Y-700

The more markers purchased, the more data points to be compared, and the more relevant and convincing the results.

What Matches See

The STR matches and SNP matches look different on the tester’s results page.

Y overview matches

Click to enlarge

People whom you match on STR panels can see that you do match, if you’ve opted-in to matching, but they can’t see specific differences or mutations. They see the name you’ve entered for yourself, your earliest known ancestor and your match can send e-mail to you. Aside from that, they can’t see your results or mutations unless you’ve joined a public project.

Y overview project

Click to enlarge

Within projects, participant names cannot be listed publicly. In other words, your matches can’t tell that it’s you unless you tell them your kit number or they recognize your earliest known ancestor on the project page and you are the only person with that ancestor.

The Big Y-700 test tests all STR markers in addition to scanning the entire Y chromosome for all SNP (haplogroup defining) mutations. They have the STR matches page like everyone else, but they also have an additional Big Ypage.

People who have taken the Big Y test see a different view of matches on their Big Y matches tab. This is true for either the original Big Y, Big Y-500 which includes a minimum of 500 STR markers or the current Big Y-700 test which includes a minimum of 700 STR markers. (You can always upgrade to the Big Y-700 from earlier tests.)

Y overview Big Y.png

For SNP markers only, above, Big Y matches can see who they match and the SNPs they do and don’t match with that person in common.

For STR markers available only under the Big Y umbrella, meaning above 111 markers, results are displayed under the Y DNA Matches tab in the Big Y STR Differences column, below.

Y overview Big Y STRs

Click to enlarge

You can easily see that only one man on this match list has also taken the Big Y test, and he had 2 differences out of 440 markers. That’s in addition to 2 differences in the first 111 markers, for a total of 4 differences (mutations) in 551 markers.

Researching Without Testing

The great news is that even if you’ve just ordered your test and are waiting for results, you can research and join projects now.

For that matter, you can research using public projects without testing by going to the main Family Tree DNA webpage, scroll down and simply entering the surname of interest into the search box.

New dashboard surname search

You’ll be directed to surname projects where you can view ancestors and results of anonymized project members.

Give it a try to see what comes up for your surnames of interest.

Project Results

Projects at Family Tree DNA provide testers with access to volunteer administrators who help users with various types of information. Administrators also cluster users in projects that are meaningful to their research.

Most Y DNA testers immediately join their surname project.

Using the Estes surname project as an example, you can see that I’ve grouped the project members in ways I feel will be helpful to their genealogy.

Y overview Estes project.png

The Paternal Ancestor Names are particularly helpful to testers as well as people who are interested in testing in order to determine whether or not they are descended from a specific line.

It’s very useful to be able to discern if someone from your line has already tested – because it provides someone for you to match against, or not, as the case may be.

Y overview hap C project.png

The haplogroup C-P39 Y DNA project is shown above with the Paternal Ancestor Name as provided by testers that reflects Native American and First Nations ancestors.

Another important project feature is the project map function, allowing testers in a specific haplogroup (C-P39 below) to view the locations of the earliest known ancestors of other members of the same haplogroup – whether project members match each other or not. Your Native ancestors traveled with theirs and descended from a common ancestor. Cool, huh!

Y overview C map.png

What’s the story associated with the pin distribution of the C-P39 project, above? I wish we knew, and we may someday as research progresses. Whatever it is, it’s probably important genealogically.

Another type of project to join is a geographical or interest group project.

The Acadian AmerIndian Project welcomes descendants who have tested the Y, autosomal and/or mitochondrial DNA of the various Acadian families which includes French and English settlers along with First Nations indigenous ancestors.

Y overview Acadian.png

The map below shows the distribution of Y DNA members of the Acadian Amerindian project diaspora before and after Le Grand Dérangement” that scattered their descendants to the winds.

Y overview Acadian map.png

The pins on the Acadian Amerindian project map above are color coded by haplogroup.

Projects such as this facilitate genealogists discovering the haplogroup and related information about their direct line ancestor without personally testing.

Y overview Doucet.png

For example, if Germain Doucet born about 1641, part of the mustard-colored group above, is my ancestor, by viewing and/or joining this project, I can obtain this information about my ancestor. Project members can see more than casual browsers, because some testers only choose to display results to other project members and some projects are private, with results only displayed to project members. Many surname projects accept descendants who don’t carry the surname itself.

I obviously can’t personally test for Germain Doucet’s Y DNA myself, but thankfully, others who do descend patrilineally from Germain Doucet have been generous enough to test and share by joining this project.

Furthermore, I can contact the tester through the project administrator(s) and gain a great cousin with potentially LOTS of information.

Just think how useful Y DNA would be to genealogists if everyone tested!

Finding Projects to Join

I encourage all testers to join appropriate haplogroup projects. Often, more than one haplogroup project exists for each Y DNA letter, such as C or R. Generally, there are many subgroups for each core haplogroup and you may want to join more than one depending on your results.

I encourage testers to browse the selections and join other interest projects. For example, there are projects such as the Anabaptist Project which focuses on an endogamous religious sect, French-Swiss which is regional, or the American Indian project for people researching Native ancestry, in addition to relevant surname and haplogroup project(s). There are more than 10,000 total (well-organized) projects to choose from.

Your project selections may be a huge benefit to someone else as well as to your own research. Y DNA testing and matching is your best bet for jumping the pond and finding connections overseas.

How to Join Projects

Sign on to your personal page at Family Tree DNA and click on myProjects at the top, then on “Join A Project.”

Mitochondrial DNA join a project

Next, you’ll see a list of projects in which your surname appears. These may or may not be relevant for you.

Y overview project list

Click to enlarge

You can search by surname.

Y overview surname search.png

More importantly, you can browse in any number of sections.

Y-overview-project-categories.png

For Y DNA, I would suggest specifically surnames, of course, Y DNA haplogroups along with Y DNA Geographical Projects, and Dual Geographical Projects.

Y overview haplogroup alpha

Click to enlarge

When you find a project of interest, click to read the description written by the volunteer administrators to see if it’s a good fit for you, then click through to join.

Next Article in the Series

Of course, you’re probably wondering what all of those numbers in your results and shown in projects mean. The next article in a couple weeks will address the meaning of STR marker results.

Testing

If you haven’t yet Y DNA tested and you want to know what secrets your Y DNA holds, you can order your Y DNA test here.

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Disclosure

I receive a small contribution when you click on some (but not all) 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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2019: The Year and Decade of Change

2019 ends both a year and a decade. In the genealogy and genetic genealogy world, the overwhelmingly appropriate word to define both is “change.”

Everything has changed.

Millions more records are online now than ever before, both through the Big 3, being FamilySearch, MyHeritage and Ancestry, but also through multitudes of other sites preserving our history. Everyplace from National Archives to individual blogs celebrating history and ancestors.

All you need to do is google to find more than ever before.

I don’t know about you, but I’ve made more progress in the past decade that in all of the previous ones combined.

Just Beginning?

If you’re just beginning with genetic genealogy, welcome! I wrote this article just for you to see what to expect when your DNA results are returned.

If you’ve been working with genetic genealogy results for some time, or would like a great review of the landscape, let’s take this opportunity to take a look at how far we’ve come in the past year and decade.

It’s been quite a ride!

What Has Changed?

EVERYTHING

Literally.

A decade ago, we had Y and mitochondrial DNA, but just the beginning of the autosomal revolution in the genetic genealogy space.

In 2010, Family Tree DNA had been in business for a decade and offered both Y and mitochondrial DNA testing.

Ancestry offered a similar Y and mtDNA product, but not entirely the same markers, nor full sequence mitochondrial. Ancestry subsequently discontinued that testing and destroyed the matching database. Ancestry bought the Sorenson database that included Y, mitochondrial and autosomal, then destroyed that data base too.

23andMe was founded in 2006 and began autosomal testing in 2007 for health and genealogy. Genealogists piled on that bandwagon.

Family Tree DNA added autosomal to their menu in 2010, but Ancestry didn’t offer an autosomal product until 2012 and MyHeritage not until 2016. Both Ancestry and MyHeritage have launched massive marketing and ad campaigns to help people figure out “who they are,” and who their ancestors were too.

Family Tree DNA

2019 FTDNA

Family Tree DNA had a banner year with the Big Y-700 product, adding over 211,000 Y DNA SNPs in 2019 alone to total more than 438,000 by year end, many of which became newly defined haplogroups. You can read more here. Additionally, Family Tree DNA introduced the Block Tree and public Y and public mitochondrial DNA trees.

Anyone who ignores Y DNA testing does so at their own peril. Information produced by Y DNA testing (and for that matter, mitochondrial too) cannot be obtained any other way. I wrote about utilizing mitochondrial DNA here and a series about how to utilize Y DNA begins in a few days.

Family Tree DNA remains the premier commercial testing company to offer high resolution and full sequence testing and matching, which of course is the key to finding genealogy solutions.

In the autosomal space, Family Tree DNA is the only testing company to provide Phased Family Matching which uses your matches on both sides of your tree, assuming you link 3rd cousins or closer, to assign other testers to specific parental sides of your tree.

Family Tree DNA accepts free uploads from other testing companies with the unlock for advanced features only $19. You can read about that here and here.

MyHeritage

MyHeritage, the DNA testing dark horse, has come from behind from their late entry into the field in 2016 with focused Europeans ads and the purchase of Promethease in 2019. Their database stands at 3.7 million, not as many as either Ancestry or 23andMe, but for many people, including me – MyHeritage is much more useful, especially for my European lines. Not only is MyHeritage a genealogy company, piloted by Gilad Japhet, a passionate genealogist, but they have introduced easy-to-use advanced tools for consumers during 2019 to take the functionality lead in autosomal DNA.

2019 MyHeritage.png

You can read more about MyHeritage and their 2019 accomplishments, here.

As far as I’m concerned, the MyHeritage bases-loaded 4-product “Home Run” makes MyHeritage the best solution for genetic genealogy via either testing or transfer:

  • Triangulation – shows testers where 3 or more people match each other. You can read more, here.
  • Tree Matching – SmartMatching for both DNA testers and those who have not DNA tested
  • Theories of Family Relativity – a wonderful new tool introduced in February. You can read more here.
  • AutoClusters – Integrated cluster technology helps you to visualize which groups of people match each other.

One of their best features, Theories of Family Relativity connects the dots between people you DNA match with disparate trees and other documents, such as census. This helps you and others break down long-standing brick walls. You can read more, here.

MyHeritage encourages uploads from other testing companies with basic functions such as matching for free. Advanced features cost either a one-time unlock fee of $29 or are included with a full subscription which you can try for free, here. You can read about what is free and what isn’t, here.

You can develop a testing and upload strategy along with finding instructions for how to upload here and here.

23andMe

Today, 23andMe is best known for health, having recovered after having had their wings clipped a few years back by the FDA. They were the first to offer Health results, leveraging the genealogy marketspace to attract testers, but have recently been eclipsed by both Family Tree DNA with their high end full Exome Tovana test and MyHeritage with their Health upgrade which provides more information than 23andMe along with free genetic counseling if appropriate. Both the Family Tree DNA and MyHeritage tests are medically supervised, so can deliver more results.

23andMe has never fully embraced genetic genealogy by adding the ability to upload and compare trees. In 2019, they introduced a beta function to attempt to create a genetic tree on your behalf based on how your matches match you and each other.

2019 23andMe.png

These trees aren’t accurate today, nor are they deep, but they are a beginning – especially considering that they are not based on existing trees. You can read more here.

The best 23andMe feature for genealogy, as far as I’m concerned, is their ethnicity along with the fact that they actually provide testers with the locations of their ethnicity segments which can help testers immensely, especially with minority ancestry matching. You can read about how to do this for yourself, here.

23andMe generally does not allow uploads, probably because they need people to test on their custom-designed medical chip. Very rarely, once that I know of in 2018, they do allow uploads – but in the past, uploaders do not receive all of the genealogy features and benefits of testing.

You can however, download your DNA file from 23andMe and upload elsewhere, with instructions here.

Ancestry

Ancestry is widely known for their ethnicity ads which are extremely effective in recruiting new testers. That’s the great news. The results are frustrating to seasoned genealogists who get to deal with the fallout of confused people trying to figure out why their results don’t match their expectations and family stories. That’s the not-so-great news.

However, with more than 15 million testers, many of whom DO have genealogy trees, a serious genealogist can’t *NOT* test at Ancestry. Testers do need to be aware that not all features are available to DNA testers who don’t also subscribe to Ancestry’s genealogy subscriptions. For example, you can’t see your matches’ trees beyond a 5 generation preview without a subscription. You can read more about what you do and don’t receive, here.

Ancestry is the only one of the major companies that doesn’t provide a chromosome browser, despite pleas for years to do so, but they do provide ThruLines that show you other testers who match your DNA and show a common ancestor with you in their trees.

2019 Ancestry.png

ThruLines will also link partial trees – showing you ancestral descendants from the perspective of the ancestor in question, shown above. You can read about ThruLines, here.

Of course, without a chromosome browser, this match is only as good as the associated trees, and there is no way to prove the genealogical connection. It’s possible to all be wrong together, or to be related to some people through a completely different ancestor. Third party tools like Genetic Affairs and cluster technology help resolve these types of issues. You can read more, here.

You can’t upload DNA files from other testing companies to Ancestry, probably due to their custom medical chip. You can download your file from Ancestry and upload to other locations, with instructions here.

Selling Customers’ DNA

Neither Family Tree DNA, MyHeritage nor Gedmatch sell, lease or otherwise share their customers’ DNA, and all three state (minimally) they will not in the future without prior authorization.

All companies utilize their customers’ DNA internally to enhance and improve their products. That’s perfectly normal.

Both Ancestry and 23andMe sell consumers DNA to both known and unknown partners if customers opt-in to additional research. That’s the purpose of all those questions.

If you do agree or opt-in, and for those who tested prior to when the opt-in began, consumers don’t know who their DNA has been sold to, where it is or for what purposes it’s being utilized. Although anonymized (pseudonymized) before sale, autosomal results can easily be identified to the originating tester (if someone were inclined to do so) as demonstrated by adoptees identifying parents and law enforcement identifying both long deceased remains and criminal perpetrators of violent crimes. You can read more about re-identification here, although keep in mind that the re-identification frequency (%) would be much higher now than it was in 2018.

People are widely split on this issue. Whatever you decide, to opt-in or not, just be sure to do your homework first.

Always read the terms and conditions fully and carefully of anything having to do with genetics.

Genealogy

The bottom line to genetic genealogy is the genealogy aspect. Genealogists want to confirm ancestors and discover more about those ancestors. Some information can only be discovered via DNA testing today, distant Native heritage, for example, breaking through brick walls.

This technology, as it has advanced and more people have tested, has been a godsend for genealogists. The same techniques have allowed other people to locate unknown parents, grandparents and close relatives.

Adoptees

Not only are genealogists identifying people long in the past that are their ancestors, but adoptees and those seeking unknown parents are making discoveries much closer to home. MyHeritage has twice provided thousands of free DNA tests via their DNAQuest program to adoptees seeking their biological family with some amazing results.

The difference between genealogy, which looks back in time several generations, and parent or grand-parent searches is that unknown-parent searches use matches to come forward in time to identify parents, not backwards in time to identify distant ancestors in common.

Adoptee matching is about identifying descendants in common. According to Erlich et al in an October 2018 paper, here, about 60% of people with European ancestry could be identified. With the database growth since that time, that percentage has risen, I’m sure.

You can read more about the adoption search technique and how it is used, here.

Adoptee searches have spawned their own subculture of sorts, with researchers and search angels that specialize in making these connections. Do be aware that while many reunions are joyful, not all discoveries are positively received and the revelations can be traumatic for all parties involved.

There’s ying and yang involved, of course, and the exact same techniques used for identifying biological parents are also used to identify cold-case deceased victims of crime as well as violent criminals, meaning rapists and murderers.

Crimes Solved

The use of genetic genealogy and adoptee search techniques for identifying skeletal remains of crime victims, as well as identifying criminals in order that they can be arrested and removed from the population has resulted in a huge chasm and division in the genetic genealogy community.

These same issues have become popular topics in the press, often authored by people who have no experience in this field, don’t understand how these techniques are applied or function and/or are more interested in a sensational story than in the truth. The word click-bait springs to mind although certainly doesn’t apply equally to all.

Some testers are adamantly pro-usage of their DNA in order to identify victims and apprehend violent criminals. Other testers, not so much and some, on the other end of the spectrum are vehemently opposed. This is a highly personal topic with extremely strong emotions on both sides.

The first such case was the Golden State Killer, which has been followed in the past 18 months or so by another 100+ solved cases.

Regardless of whether or not people want their own DNA to be utilized to identify these criminals and victims, providing closure for families, I suspect the one thing we can all agree on is that we are grateful that these violent criminals no longer live among us and are no longer preying on innocent victims.

I wrote about the Golden State Killer, here, as well as other articles here, here, here and here.

In the genealogy community, various vendors have adopted quite different strategies relating to these kinds of searches, as follows:

  • Ancestry, 23andMe and MyHeritage – have committed to fight all access attempts by law enforcement, including court ordered subpoenas.
  • MyHeritage, Family Tree DNA and GedMatch allow uploads, so forensic kits, meaning kits from deceased remains or rape kits could be uploaded to search for matches, the same as any other kit. Law Enforcement uploads violate the MyHeritage terms of service. Both Family Tree DNA and GEDmatch have special law enforcement procedures in place. All three companies have measures in place to attempt to detect unauthorized forensic uploads.
  • Family Tree DNA has provided a specific Law Enforcement protocol and guidelines for forensic uploads, here. All EU customers were opted out earlier in 2019, but all new or existing non-EU customers need to opt out if they do not want their DNA results available for matching to law enforcement kits.
  • GEDmatch was recently sold to Verogen, a DNA forensics company, with information, here. Currently GEDMatch customers are opted-out of matching for law enforcement kits, but can opt-in. Verogen, upon purchase of GEDmatch, required all users to read the terms and conditions and either accept the terms or delete their kits. Users can also delete their kits or turn off/on law enforcement matching at any time.

New Concerns

Concerns in late 2019 have focused on the potential misuse of genetic matching to potentially target subsets of individuals by despotic regimes such as has been done by China to the Uighurs.

You can read about potential risks here, here and here, along with a recent DoD memo here.

Some issues spelled out in the papers can be resolved by vendors agreeing to cryptographically sign their files when customers download. Of course, this would require that everyone, meaning all vendors, play nice in the sandbox. So far, that hasn’t happened although I would expect that the vendors accepting uploads would welcome cryptographic signatures. That pretty much leaves Ancestry and 23andMe. I hope they will step up to the plate for the good of the industry as a whole.

Relative to the concerns voiced in the papers and by the DoD, I do not wish to understate any risks. There ARE certainly risks of family members being identified via DNA testing, which is, after all, the initial purpose even though the current (and future) uses were not foreseen initially.

In most cases, the cow has already left that barn. Even if someone new chooses not to test, the critical threshold is now past to prevent identification of individuals, at least within the US and/or European diaspora communities.

I do have concerns:

  • Websites where the owners are not known in the genealogical community could be collecting uploads for clandestine purposes. “Free” sites are extremely attractive to novices who tend to forget that if you’re not paying for the product, you ARE the product. Please be very cognizant and leery. Actually, just say no unless you’re positive.
  • Fearmongering and click-bait articles in general will prevent and are already causing knee-jerk reactions, causing potential testers to reject DNA testing outright, without doing any research or reading terms and conditions.
  • That Ancestry and 23andMe, the two major vendors who don’t accept uploads will refuse to add crypto-signatures to protect their customers who download files.

Every person needs to carefully make their own decisions about DNA testing and participating in sharing through third party sites.

Health

Not surprisingly, the DNA testing market space has cooled a bit this past year. This slowdown is likely due to a number of factors such as negative press and the fact that perhaps the genealogical market is becoming somewhat saturated. Although, I suspect that when vendors announce major new tools, their DNA kit sales spike accordingly.

Look at it this way, do you know any serious genealogists who haven’t DNA tested? Most are in all of the major databases, meaning Ancestry, 23andMe, FamilyTreeDNA, MyHeritage and GedMatch.

All of the testing companies mentioned above (except GEDmatch who is not a testing company) now have a Health offering, designed to offer existing and new customers additional value for their DNA testing dollar.

23andMe separated their genealogy and health offering years ago. Ancestry and MyHeritage now offer a Health upgrade. For existing customers, FamilyTreeDNA offers the Cadillac of health tests through Tovana.

I would guess it goes without saying here that if you really don’t want to know about potential health issues, don’t purchase these tests. The flip side is, of course, that most of the time, a genetic predisposition is nothing more and not a death sentence.

From my own perspective, I found the health tests to be informative, actionable and in some cases, they have been lifesaving for friends.

Whoever knew genealogy might save your life.

Innovative Third-Party Tools

Tools, and fads, come and go.

In the genetic genealogy space, over the years, tools have burst on the scene to disappear a few months later. However, the last few years have been won by third party tools developed by well-known and respected community members who have created tools to assist other genealogists.

As we close this decade, these are my picks of the tools that I use almost daily, have proven to be the most useful genealogically and that I feel I just “couldn’t live without.”

And yes, before you ask, some of these have a bit of a learning curve, but if you are serious about genealogy, these are all well worthwhile:

  • GedMatch – offers a wife variety of tools including triangulation, half versus fully identical segments and the ability to see who your matches also match. One of the tools I utilize regularly is segment search to see who else matches me on a specific segment, attached to an ancestor I’m researching. GedMatch, started by genealogists, has lasted more than a decade prior to the sale in December 2019.
  • Genetic Affairs – a barn-burning newcomer developed by Evert-Jan Blom in 2018 wins this years’ “Best” award from me, titled appropriately, the “SNiPPY.”.

Genetic Affairs 2019 SNiPPY Award.png

Genetic Affairs offers clustering, tree building between your matches even when YOU don’t have a tree. You can read more here.

2019 genetic affairs.png

Just today, Genetic Affairs released a new cluster interface with DNAPainter, example shown above.

  • DNAPainter – THE chromosome painter created by Jonny Perl just gets better and better, having added pedigree tree construction this year and other abilities. I wrote a composite instructional article, here.
  • DNAGedcom.com and Genetic.Families, affiliated with DNAAdoption.org – Rob Warthen in collaboration with others provides tools like clustering combined with triangulation. My favorite feature is the gathering of all direct ancestors of my matches’ trees at the various vendors where I’ve DNA tested which allows me to search for common surnames and locations, providing invaluable hints not otherwise available.

Promising Newcomer

  • MitoYDNA – a non-profit newcomer by folks affiliated with DNAAdoption and DNAGedcom is designed to replace YSearch and MitoSearch, both felled by the GDPR ax in 2018. This website allows people to upload their Y and mitochondrial DNA results and compare the values to each other, not just for matching, which you can do at Family Tree DNA, but also to see the values that do and don’t match and how they differ. I’ll be taking MitoYDNA for a test drive after the first of the year and will share the results with you.

The Future

What does the future hold? I almost hesitate to guess.

  • Artificial Intelligence Pedigree Chart – I think that in the not-too-distant future we’ll see the ability to provide testers with a “one and done” pedigree chart. In other words, you will test and receive at least some portion of your genealogy all tidily presented, red ribbon untied and scroll rolled out in front of you like you’re the guest on one of those genealogy TV shows.

Except it’s not a show and is a result of DNA testing, segment triangulation, trees and other tools which narrow your ancestors to only a few select possibilities.

Notice I said, “the ability to.” Just because we have the ability doesn’t mean a vendor will implement this functionality. In fact, just think about the massive businesses built upon the fact that we, as genealogists, have to SEARCH incessantly for these elusive answers. Would it be in the best interest of these companies to just GIVE you those answers when you test?

If not, then these types of answers will rest with third parties. However, there’s a hitch. Vendors generally don’t welcome third parties offering advanced tools and therefore block those tools, even though they are being used BY the customer or with their explicit authorization to massage their own data.

On the other hand, as a genealogist, I would welcome this feature with open arms – because as far as I’m concerned, the identification of that ancestor is just the first step. I get to know them by fleshing out their bones by utilizing those research records.

In fact, I’m willing to pony up to the table and I promise, oh-so-faithfully, to maintain my subscription lifelong if one of those vendors will just test me. Please, please, oh pretty-please put me to the test!

I guess you know what my New Year’s Wish is for this and upcoming years now too😊

What About You?

What do you think the high points of 2019 have been?

How about the decade?

What do you think the future holds?

Do you care to make any predictions?

Are you planning to focus on any particular goal or genealogy problem in 2020?

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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.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Charting Companion Creates Easy, Quick Last-Minute Gifts

Do you need something quickly for a last-minute gift? One of my blog readers asked about printing quality genealogy charts and I have a super-easy solution. You can literally be printing charts in minutes.

Genealogy charts are perfect gifts because they are both personal and fun. Not to mention the added benefit of being very easy on the budget. I like to give family members unique gifts. 

I’m always looking for ways to integrate genealogy into the lives of my family. Many times, they are interested, just not AS interested as I am😊

Charts make great study guides for my grandkids too. We’ve incorporated ancestors as examples for their history classes many times. Revolutionary war, slavery, Mayflower, Native Americans and much more.

I’ve used Charting Companion for years, so I’d like to show you a handful of cool charts that you can create to give as gifts along with a few tools to utilize for your own genealogy, including DNA. So, you’re giving gifts and getting something helpful for yourself too.

Charting Companion is meant to be utilized “on top of” or in conjunction with genealogy software on your computer such as RootsMagic, Family Tree Maker, Legacy Family Tree, or others. There is also a version for FamilySearch.

Getting Started

When you purchase Charting Companion, there’s a Quick Start Guide that pops right up that explains what you need to know.

Chart quick start.png

You’ll be creating your choice of 17 charts and reports in 3 clicks.

Gift Charts

Let’s take a look at some wonderful charts that make good gift options because you can print them on a standard size paper. I’d recommend higher quality 28-32 pound paper.

Ancestor Fan Chart

One of my all-time favorites is the Ancestor Fan Chart where you (or the gift recipient) is selected as the home person and appears in the middle.

chart ancestor fan.png

The colors are customizable, and you can generate this as a file or print it on your printer. You can even select the option for “embroider.”

This chart is also available as a complete circle.

I’ve done something a bit different. You’ll notice that several of my ancestors in this chart have middle names that look suspiciously like haplogroups. That’s because they are. This is a great way for me to keep track of which lines have and have not been tested.

Ancestor Fan X Chart

You can select the fan chart highlighting the X chromosome path to assist your DNA matching. I have one of these pinned to the wall by my desk.

chart ancestor x fan.png

You can read more about using these charts and the unique X inheritance path here. The fact that men only inherit an X chromosome from their mother means that your X matches only descend from a subset of your ancestors. This is EXTREMELY USEFUL information genealogically and this tool makes the common ancestor possibilities immediately visible.

This probably isn’t colorful enough to be a good gift, but it’s a great tool. I love the X fan chart!

Descendant Fan Chart

Another great gift is the Descendant Fan Chart.

chart descendant fan 2.png

In a Descendant Fan Chart, the ancestor is in the center, and all of the various descendants are displayed in the radiating circles. If I was giving this as a gift, I would make sure to select the correct number of generations for the recipient to be shown in the outer band.

There’s a handy preview option for all charts.

For both the ancestor and descendant fan charts, there’s an option to create embroidery instructions so you can have your chart embroidered on a shirt, bag or something else. I think the circle option would be absolutely stunning in the center of a quilt. (Hmmm…)

Dandelion Chart

Did you know there was such a thing as a Dandelion Chart? I didn’t.

Chart dandelion.png

I like this Dandelion chart because it shows the ancestors AND descendants of the selected ancestor in one attractive chart. It fits itself to size and it’s fun to watch the ancestors and descendants “slide” into place. I don’t know how to explain this – you’ll just have to watch.

Ancestor Chart

The Ancestor Chart allows you to select the colors, number of generations and so forth. This is what I typically think of as a pedigree chart, but this version is much more colorful. You can select which information to include in the boxes.

Chart ancestor.png

If you were going to give this chart as a gift, you would select the recipient to be the home person in the chart. You can also include photos and more.

Fractal Tree Chart

I didn’t know about Fractal Tree Charts either. This took me a minute to get used to.

chart fractal tree.png

I like this style because you can view many generations at once, with the colors helping to identify generations and who connects to whom. I really like this balanced chart.

Ancestor Book

Another wonderful gift, but one that isn’t frameable, is the Ancestor Book. You can also include your notes which would be invaluable to someone if they decided to become interested one day long in the future after your GEDCOM file is long gone.

Chart ancestor book.png

I’ve given things like this before as gifts in a 3 ring binder with a lovely family photo slid inside the clear sleeve on the front cover.

This prineted report would be wonderful to contribute to relevant libraries and archives for those of us who want to make sure our work outlives us.

Gifts for You

These next two features are gifts for you.

Mitochondrial Descendants

I want a mitochondrial DNA representative test for all of my ancestors. You don’t know what you don’t know and mitochondrial DNA has broken thought several brick walls. Don’t let anyone tell you otherwise or discourage you from testing.

I would like to find a living descendant of Catharina Schaeffer (c1780-c1826) who carries her mitochondrial DNA. Shameless plug – if this is you, I have a testing scholarship with your name on it!

Using the Descendant Chart, you can select for Mitochondrial DNA, and then the number of relevant generations to show. Clearly, I can’t show you all of the generations to current without compromising living people’s privacy, but you can see that all of the people with pink (females) or blue (males) in this descendant chart carry Catharine’s mitochondrial DNA.

chart mitochondrial

Click to enlarge

The males, of course, won’t pass mitochondrial DNA on to their descendants, but the females will – to daughters and sons both – so in the current generation, males and females can both test so long as they descend from Catharina directly through all females.

If you haven’t tested your mitochondrial DNA, or you find someone to test to represent one of your ancestors, you can purchase the full sequence mitochondrial DNA test here.

I LOVE this tool.

DNA Matrix

The DNA Matrix graphically displays relationships between people who have taken DNA tests and share DNA with each other.

Chart DNA Matrix.png

The DNA Matrix only works with Family Tree Maker software, so I can’t show you with my own data because I use a different program. The hypothetical example above is provided by Charting Companion.

In a nutshell, you download your DNA matches with segment informatoin from vendors where you have tested or transferred. Charting Companion then syncs your matches file with your Family Tree Maker (FTM) file and creates a chart showing relationships between you and your matches. You must add a DNA kit event in your FTM file in advance so that the software known to link to that person.

Here’s a description page provided by Progeny Software (developer of Charting Companion) along with an instructional YouTube video here.

To obtain results for the DNA Matrix, you’ll need DNA match files (NOT your raw DNA file) from vendors. Follow the instructions provided by Charting Companion. You must test AT 23andMe and Ancestry because they don’t accept inbound transfers. You can, however, transfer to other vendors who provide additional matches and segment information after testing at either 23andMe or Ancestry.

After downloading your raw data file (not to be confused with your matches file,) you can transfer your DNA for free to FamilyTreeDNA, MyHeritage and GedMatch. The transfer (and matching) is free at all 3 of these vendors, but the advanced tools require an unlock fee or subscription. I’ve written about how to create your own money-saving DNA Testing and Transfer Strategy here.

If you utilize the DNA Matrix, let me know what you think.

And More

There are several more charts available through Charting Companion too, but I think the one-page charts included here would make great frameable gifts. Of course, you’ll enjoy the workhorse charts and tools for your own genealogy.

You can download Charting Companion right now for $39.95 and be printing charts within a few minutes – literally.

Click here to take a look or purchase.

______________________________________________________________

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.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Are You DNA Testing the Right People?

We often want to purchase DNA kits for relatives, especially during the holidays when there are so many sales. (There are links for free shipping on tests in addition to sale prices at the end of this article. If you already know who to test, pop on down to the Sales section, now.)

Everyone is on a budget, so who should we test to obtain results that are relevant to our genealogy?

We tell people to test as many family members as possible – but what does that really mean?

Testing everyone may not be financially viable, nor necessary for genealogy, so let’s take a look at how to decide where to spend YOUR testing dollars to derive the most benefit.

It’s All Relative😊

When your ancestors had children, those children inherited different pieces of your ancestors’ DNA.

Therefore, it’s in your best interest to test all of the direct descendants generationally closest to the ancestor that you can find.

It’s especially useful to test descendants of your own close ancestors – great-great-grandparents or closer – where there is a significant possibility that you will match your cousins.

All second cousins match, and roughly 90% (or more) of third cousins match.

Percent of cousins match.png

This nifty chart compiled by ISOGG shows the probability statistics produced by the major testing companies regarding cousin matching relationships.

My policy is to test 4th cousins or closer. The more, the merrier.

Identifying Cousins

  • First cousins share grandparents.
  • Second cousins share great-grandparents.
  • Third cousins share great-great-grandparents.

The easiest way for me to see who these cousins might be is to open my genealogy software on my computer, select my great-great-grandparent, and click on descendants. Pretty much all software has a similar function.

The resulting list shows all of the descendants of that ancestor that I’ve entered in my software. Most genealogists already have or could construct this information with relative ease. These are the cousins you need to be talking to anyway, because they will have photos and stories that you don’t. If you don’t know them, there’s never been a better time to reach out and introduce yourself.

Who to test descendants software

Click to enlarge

People You Already Know

Sometimes it’s easier to start with the family you already know and may see from time to time. Those are the people who will likely be the most beneficial to your genealogy.

Who to test 1C.png

Checking my tree at FamilyTreeDNA, Hiram Ferverda and Evaline MIller are my great-grandparents. All of their children are deceased, but I have a relationship with the children born to their son, Roscoe. Both Cheryl and her brother carry parts of Hiram and Eva’s DNA their son John Ferverda (my grandfather) didn’t inherit, and therefore that I can’t carry.

Therefore, it’s in my best interest to gift my cousin, Cheryl and her brother, both, with DNA kits. Turns out that I already have and my common matches with both Cheryl and her brother are invaluable because I know that people who match me plus either one of them descend from the Ferverda or Miller lines. This relationship and linking them on my tree, shown above, allows Family Tree DNA to perform phased Family Matching which is their form of triangulation.

It’s important to test both siblings, because some people will match me plus one but not the other sibling.

Who’s Relevant?

Trying to convey the concept of who to test and not to test, and why, is sometimes confusing.

Many family members may want to test, but you may only be willing to pay for those tests that can help your own genealogy. We need to know who can best benefit our genealogy in order to make informed decisions.

Let’s look at example scenarios – two focused on grandparents and two on parents.

In our example family, a now-deceased grandmother and grandfather have 3 children and multiple grandchildren. Let’s look at when we test which people, and why.

Example 1: Grandparents – 2 children deceased, 1 living

In our first example, Jane and Barbara, my mother, are deceased, but their sibling Harold is living. Jane has a living daughter and my mother had 3 children, 2 of which are living. Who should we test to discover the most about my maternal grandparents?

Please note that before making this type of a decision, it’s important to state the goal, because the answer will be different depending on your goal at hand. If I wanted to learn about my father’s family, for example, instead of my maternal grandparents, this would be an entirely different question, answer, and tree.

Descendant test

Click to enlarge

The people who are “married in” but irrelevant to the analysis are greyed out. In this case, all of the spouses of Jane, Barbara and Harold are irrelevant to the grandmother and grandfather shown. We are not seeking information about those spouses or their families.

The people I’ve designated with the red stars should be tested. This is the “oldest” generation available. Harold can be tested, so his son, my first cousin, does not need to test because the only part of the grandparent’s DNA that Harold’s son can inherit is a portion of what his father, Harold, carries and gave to him.

Unfortunately, Jane is deceased but her daughter, Liz, is available to test, so Liz’s son does not need to.

I need to test, as does my living brother and the children of my deceased brother in order to recover as much as possible of my mother’s DNA. They will all carry pieces of her DNA that I don’t.

The children of anyone who has a red star do NOT need to test for our stated genealogical purpose because they only carry a portion of thier parent’s DNA, and that parent is already testing.

Those children may want to test for their own genealogy given that they also have a parent who is not relevant to the grandfather and grandmother shown. In my case, I’m perfectly happy to facilitate those tests, but not willing to pay for the children’s tests if the relevant parent is living. I’m only willing to pay for tests that are relevant to my genealogical goals – in this case, my grandparents’ heritage.

In this scenario, I’m providing 5 tests.

Of course, you may have other family factors in play that influence your decision about how many tests to purchase for whom. Family dynamics might include things like hurt feelings and living people who are unwilling or unable to test. I’ve been known to purchase kits for non-biologically related family members so that people could learn how DNA works.

Example 2: Grandparents – 2 children living, one deceased

For our second example, let’s change this scenario slightly.

Descendant test 2

Click to enlarge

From the perspective of only my grandparents’ genealogy, if my mother is alive, there’s no reason to test her children.

Barbara and Harold can test. Since Jane is deceased, and she had only one child, Liz is the closest generationally and can test to represent Jane’s line. Liz’s son does not need to test since his mother, the closest relative generationally to the grandparents is available to test.

In this scenario, I’m providing 3 tests.

Example 3: My Immediate Family – both parents living

In this third example, I’m looking from strictly MY perspective viewing my maternal grandparents (as shown above) AND my immediate family meaning the genealogical lines of both of my parents. In other words, I’ve combined two goals. This makes sense, especially if I’m going to be seeing a group of people at a family gathering. We can have a swab party!

Descendants - parents alive

Click to enlarge

In the situation where my parents are both living, I’m going to test them in addition to Harold and Liz.

I’m testing myself because I want to work using my own DNA, but that’s not really necessary. My parents will both have twice as many matches to other people as I do – because I only inherited half of each parent’s DNA.

In this scenario, I’m providing 5 tests.

Example 4: My Immediate Family – one parent living, one deceased

Descendants - father deceased

Click to enlarge

In our last example, my mother is living but my father is deceased. In addition to Harold and Liz who reflect the DNA of my maternal grandparents, I will test myself, my mother my living brother and my deceased brother’s child.

Because my father is deceased, testing as many of my father’s descendants as possible, in addition to myself, is the only way for me to obtain some portion of his DNA. My siblings will have pieces of my parent’s DNA that I don’t.

I’m not showing my father’s tree in this view, but looking at his tree and who is available to test to provide information about his side of the family would be the next logical step. He may have siblings and cousins that are every bit as valuable as the people on my mother’s side.

Applying this methodology to your own family, who is available to test?

Multiple Databases

Now that you know WHO to test, the next step is to make sure your close family members test at each of the major providers where your DNA is as well.

I test everyone at Family Tree DNA because I have been testing family members there for 19 years and many of the original testers are deceased now. The only way new people can compare to those people is to be in the FamilyTreeDNA data base.

Then, with permission of course, I transfer all kits, for free, to MyHeritage. Matching is free, but if you don’t have a subscription, there’s an unlock fee of $29 to access advanced tools. I have a full subscription, so all tools are entirely free for the kits I transfer and manage in my account.

Transferring to Family Tree DNA and matching there is free too. There’s an unlock fee of $19 for advanced tools, but that’s a good deal because it’s substantially less than a new test.

Neither 23andMe nor Ancestry accept transfers, so you have to test at each of those companies.

The great news is that both Ancestry and 23andMe tests can be transferred to  MyHeritage and FamilyTreeDNA.

Before purchasing tests, check first by asking your relatives or testing there yourself to be sure they aren’t already in those databases. If they took a “spit in a vial” test, they are either at 23andMe or Ancestry. If they took a swab test, it’s MyHeritage or FamilyTreeDNA.

I wrote about creating a testing and transfer strategy in the article, DNA Testing and Transfers – What’s Your Strategy? That article includes a handy dandy chart about who accepts which versions of whose files.

Sales

Of course, everything is on sale since it’s the holidays.

Who are you planning to test?

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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.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

Genetic Affairs Reconstructs Trees from Genetic Clusters – Even Without Your Tree or Common Ancestors

Since Genetic Affairs launched in 2018, they’ve added a LOT of new functionality. I initially wrote about their clustering functionality here.

Genetic Affairs AutoClustering, SuperClusters and brand-new AutoTree tree reconstruction are to-die-for features for traditional genealogists. For adoptees or people seeking unknown parentage, they are the best thing since sliced bread, automating tasks previously peformed manually over labor-filled hours, days and months.

Why Genetic Affairs?

Genetic Affairs works with matches from three vendors; Ancestry, FamilyTreeDNA’s Family Finder test and 23andMe.

MyHeritage has integrated a version of Genetic Affairs directly into their product offering on the MyHeritage website so every MyHeritage DNA customer receives clustering functionality, free, through MyHeritage, but not tree reconstruction.

GedMatch has also implemented an autocluster version for Tier 1 users, but GedMatch’s version only works at GedMatch, of course, and does not include the new tree reconstruction feature.

This article pertains to the functionality of the features available directly through Genetic Affairs, including:

  • Clustering your matches visually to identify ancestral lines of people that match you and each other
  • Reports by cluster including common surnames and locations
  • Analysis of trees within each cluster to identify common ancestors
  • Partially reconstructs trees with your known ancestors for each cluster
  • Partially reconstructs trees between your matches even if you don’t have a tree or don’t share the common ancestor

Genetic Affairs provides visualization for linked DNA matches along with critically important clues to help you figure out just how you are related to these people, and these clusters of interrelated people. The Genetic Affairs user manual can be found here.

Analysis

Each time you run Genetic Affairs is called an analysis. Each analysis scans your kit at the selected vendor(s) for all current matches. A few minutes later, you receive a zip file via e-mail with two or three files depending on your selections at Genetic Affairs and the tree availabilty of the vendor:

  • Autocluster file including the visual clusters plus additional information
  • Excel spreadsheet of cluster members and relevant information such as common ancestors and common locations
  • Tree file containing reconstructed trees (23andMe does not support trees, so no trees are available for 23andMe clusters)

Let’s look at each feature. Grab a cup of coffee and head for the computer.

Selecting Analysis Options

I encourage you to experiment. Selecting a wider range of cM (centimorgans) results in a larger file, but may also mean that the analysis times out.

For this report, I’m utilizing my matches at FamilyTreeDNA and selected a cM range of 50 minimum and 250 maximum. I wanted a minimum cluster size of 2 people, meaning 2 in addition to me. This resulted in 249 total matches that met that criteria and 20 people who met the cM criteria but did not have another person with whom to cluster.

I tried a second analysis using 20 cM – 300 cM resulting in a much larger file with 499 people in the cluster group. Currently, 499 is the maximum that will be processed.

Genetic Affairs profiles.png

On the Genetic Affairs Profiles page, I can view all of the profiles I manage. Users can schedule updates where Genetic Affairs automatically scans for matches and produces reports.

Genetic Affairs my profiles

Click to enlarge

By clicking on the Autoscan button, you can schedule automated recurring scans with e-mail notification.

Genetic Affairs autoscan

Click to enlarge

You can scan daily, weekly, monthly or never – whatever interval you select.

You can select both the minimum level of DNA match and the minimum cM. The lowest you can select is 9cM.

You can view any e-mails that have been sent to you by Genetic Affairs. The green envelope means that there’s something in your e-mail box. This answers the question about whether the report was completed and sent. If the report has been sent, but is not in your e-mail, check your spam filter.

Starting the Scan

Back on the Genetic Affairs profiles page, you can initiate an autocluster by clicking on the AutoCluster button where you’ll see the options based on which vendor you’ve selected.

Genetic Affairs autocluster.png

For example, at Ancestry, you can include only people in a particular group or only starred matches.

Genetic Affairs Ancestry autocluster

Click to enlarge

23andMe includes surname enrichment and triangulated groups options.

Genetic Affairs 23andme autocluster.png

FamilyTreeDNA and Ancestry both include the “AutoTree – identify common ancestors from trees” option. It’s very important that you click this box if you select the “Default AutoCluster” option – or you won’t get the reconstructed trees.

Genetic Affairs default autocluster.png

Of course, you can always run the analysis again.

Genetic Affairs autotree.png

If you click on the “AutoTree AutoCluster” function, the AutoTree box is already checked for you.

Genetic Affairs autotree autocluster.png

Rule Based AutoCluster

The “Rule based AutoCluster” is a dream-come-true for people seeking unknown parents or ancestors in a relatively recent timeframe.

Genetic Affairs Rule Based Autocluster.png

The “Rule based AutoCluster” provides you with options that allow you to do three things:

  • NOT – Exclude your matches with someone else. For example, your mother has tested. You can use the NOT rule to exclude anyone you might match through your mother’s side, providing you with clusters from your father’s side.
  • AND – Combine your results with someone else’s. If you have identified a half-sibling, you can view only clusters of only people who match you AND your half sibling.
  • OR – Combined rules. You can request a cluster of everyone in clusters with person A but not in a cluster with person B. In this case, if you match a number of half siblings, you can include all of their matches, except people who match them through their “other” parent, if that parent has tested.

Genetic Affairs has provided some graphics and examples here, but you may have to be a member of the site to access this page because the options are customized for you. So I’ll include the non-customized information, below. You can click these to open in a separate window and enlarge.

Genetic Affairs rule based 1.pngGenetic Affairs rule based 2.png

The “Rule based AutoCluster” explanations provided by Genetic Affairs.

Genetic Affairs rule based 3.png

Read the details of how these tools work. They are powerful, so don’t assume you understand without reading carefully.

Now let’s cluster!

Clustering Your Matches

Genetic Affairs autocluster order.png

At Genetic Affairs, if you initiate clustering by clicking on the AutoCluster button, you’ll need to put a checkmark in the AutoTree function box. If you began by clicking the AutoTree button, the box is automatically checked for you.

A few minutes later, you’ll receive an email with a zipped file. Save this file to someplace on your computer where you can find it, and open the zipped file by clicking.

Genetic Affairs zip file.png

You’ll see the files, above.

Click on the chrome AutoCluster HTML file which will display in your browser.

The first thing you will see is your visual autocluster. It’s so much fun to watch your matches “fly” into place!

Each of the people in this cluster are somehow related to the other people in the custer who have cells of the same color. The people with grey cells are included in two clusters – meaning the one to the right and the one above, both.

Genetic Affairs cluster.png

The names of the matches are listed to the left and above the display.

The legend is to the right.

Genetic Affairs cluster legend.png

I have a total of 41 clusters.

Scrolling down the page, each cluster has additional information, and each column is searchable or selectable, including comments I’ve entered at the vendor.

Genetic Affairs autocluster info

Click to enlarge

Just by looking at these first 3 matches, I know immediately which side of the family and which ancestors are involved with this cluster. I can look at my notes, to the right, which indicate whether I’ve identified our common ancestor. I paint identified matches at DNAPainter which I’ve entered into the notes field at the vendor.

If I’m signed in to my account at the vendor, I can click on my match’s tree link, above, and take a look. Keep in mind that these people can be related to you, and each other, through multiple ancestors.

Genetic Affairs autocluster members.png

You can hover over any person in the grid, above, to view additional information. For each person whose square is grey, indicating membership in (at least) two clusters, you can hover over the grey square and view the members of both clusters. In this case, I’m hovered over the grey square of Brooke and E.H and the black box shows me who is in both people’s clusters.

Note that while a match could be related to you through several ancestors, and hence be in more than 2 clusters, because of the grid nature of clustering, a match can only be displayed in a maximum of 2 different clusters.

Looking at the auto-generated table below, I see the common surnames in cluster 1. Keep in mind that many of these people maybe related to each other through a spouse that you aren’t. Your ancestor’s brother’s children, for example, are also related to each other through your ancestor’s brother’s wife.

Genetic Affairs surnames.png

I know that Vannoy is the common line, but Upton isn’t my ancestor – at least not that I know of. However, a surname with 20 people in a cluster needs to be investigated and evaluated. Do I have any missing wives in this line? Here’s a really great place to start digging.

In this case, it turns out that one of my ancestor’s children married an Upton, and several of his descendants have tested.

Let’s see what other tools we have.

The Ancestor Spreadsheet

Opening the spreadsheet file, I see several rows and columns.

Genetic Affairs common ancestor

Click to enlarge

The common ancestor between the people in the rows is listed at left. The green cells are from my tree.

Two example ancestors are shown above, Mary McDowell and William Harrell, who just happen to have been married to each other.

Scrolling on down, I see rows without green cells.

Genetic Affairs ancestors

Click to enlarge

These people share a common ancestor in their trees, an ancestor that isn’t in my tree. Presumably this is an ancestor I don’t share with them – or one I haven’t identified.

For example, “Bev” and “van” share William Grubb. “Vicki” and “Mark” share Martha Helen Smith. I don’t share either of these ancestors, but Martha Smith married Alvis Winster Bolton, the son of my ancestor – so I know why Martha Helen Smith appears as a common person in the trees of my matches, but not me.

Further down in the same cluster, I notice that one match shares multiple lines in our trees. Therefore, our DNA match could be on either line, or some segments from one line and some from the other.

Scrolling to the bottom of each cluster’s sheet, common locations are provided.

Genetic Affairs locations

Click to enlarge

While the designation of “Tennessee” isn’t terribly exciting, scrolling further down provides a list by county, and that IS exciting, especially if you’re chasing a brick wall. Sometimes a group of ancestors in a location where you’re seeking a female’s family is very suggestive especially when combined with ancestral names and surnames.

Let’s move on to the third group of files, Trees.

The Tree File

Click on the tree file and you’ll see the following.

Genetic Affairs tree file.png

Reconstructed Trees

For each cluster where trees can be reconstructed, you’ll see two files for cluster 1:

  • Ancestors 1
  • Tree 1

Opening the file labeled Ancestors 1, I see the following information for the first ancestor, meaning a common ancestor between the two people listed below that ancestor. You can click to enlarge these images.

Genetic Affairs ancestors by cluster.png

Opening the corresponding Tree 1 file, I see that Genetic Affairs has reconstructed the tree between me and the other testers as best it can based on the provided trees.

Genetic Affairs reconstructed trees.png

Looking at the tree for cluster 3, below, I see this line in cluster 1, above, has been extended because Sarah, the pink match and me all share a common ancestor, Elizabeth Shepherd.

Genetic Affairs reconstructed tree 2.png

Looking at another cluster, below, while I don’t share an ancestor in a tree, three people that I match at a relatively high level do.

Genetic Affairs reconstructed tree no common ancestor.png

As you can see, their common ancestor is Anne Adelaide Chiasson. This is my Acadian line, so our common ancestor or ancestors must be someplace on up that tree, or the result of an undocumented adoption, or a missing ancestor in our trees.

Constructing the trees of your matches to each other, even when you don’t have a common ancestor in your tree, is the best feature of all.

Clustering plus tree reconstruction, especially in combination with the other clues, is the key to breaking through those unyielding  brick walls.

Super AutoClusters

Just as I was getting ready to publish this article, Genetic Affairs released a new feature called Super AutoCluster.

I absolutely love this, because it combines your clusters from multiple vendors – today Ancestry, who does not provide segment information, along with Family Tree DNA, who  provides invaluable segment information.

This combination can be extremely powerful.

To begin a Super AutoCluster, click on that option under an AncestryDNA kit that also has a kit at Family Tree DNA. Both kits need to have a profile at Genetic Affairs.

Genetic Affairs supercluster.png

Next, you’ll see the screen confirming the kits to use. The combined autocluster tool is limited to a total of 500 matches, or 250 at each account. However, that’s more than enough to make some great progress.

Press “Perform Analysis.”

Drum roll please…

Voila, your combined cluster.

Genetic Affairs supercluster cluster

Click to enlarge

In this example, you can see the large peach and purple Ancestry clusters. The green red, brown and pink smaller clusters are Family Tree DNA clusters. The Family Tree DNA clusters have tiny little Fs in their cells. If you click the above graphic to enlarge, you can see the Fs.

However, the grey cells that intersect the two clusters, meaning an Ancestry and a Family Tree DNA cluster, are found in both of those clusters, connecting the clusters for you logically.

If you look closely at the cells labeled here with “common names,” you’ll see “N” in the cells indicating a common names for you to check out within that cluster.

The “Common Ancestors” box shows the people who connect to both clusters.

There are also a number of people that span the green and red Family Tree DNA clusters too.

Genetic Affairs then proceeds to combine the clustered DNA matches and trees for you from both vendors.

Genetic Affairs supercluster tree

Click to enlarge

In addition to the cluster graph and spreadsheet information that now includes combined information, you’ll see a much larger clustered tree.

And again, the best part is that even if you don’t know how you connect to people through trees, their tree and ancestors will be connected, even if you’re absent. You’ll be present in the genetic cluster itself, so you can work the combined tree cluster to see where you might fit in that branch of the family. Because trust me, you do fit – somehow, someplace.

Cost

Genetic Affairs uses a “credit” payment system. Your first 200 credits are free so you can learn. These may last you for weeks or months, depending on how often you run the clusters. If you manage multiple kits, you’ll use credits more quickly, but it’s worth every last dollar. Genetic Affairs is very inexpensive. I manage multiple accounts and I spend around $5 per month. You can read about Genetic Affairs’ payment plans and see sample calculations here.

My recommendation is simply to dive in and use your free credits. By the way, I’m gifting myself with a “credit purchase” for Christmas😊

Genetic Affairs is a wonderful genealogy gift idea for serious genealogists, adoptees or people seeking unknown parents or ancestors in recent generations.

Have You Tested or Transferred With All 4 Vendors?

If you haven’t yet tested at or transferred to each of the main 4 vendors, clustering, reconstructed trees and SuperClusters is yet another reason to do so. Additionally, every close relative’s DNA holds hints that yours doesn’t, so be sure to test them too.

You can purchase kits, below, or read about how to transfer your DNA to vendors who accept uploads – FamilyTreeDNA, MyHeritage and GedMatch, all for free, here.

Enjoy!

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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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

FamilyTreeDNA Thanksgiving Sale + New Comprehensive Health Report

FTDNA Thanksgiving.png

FamilyTreeDNA’s Thanksgiving Sale has begun. Almost everything is on sale. I don’t know about you, but I like to have all of my holiday planning and purchasing DONE before Thanksgiving. Some of the gifts I wanted for people this year are already sold out or backordered – but DNA testing is always available. The gift of history, and now of health too.

I wrote about the Big Y test and upgrades just a couple days ago, here, including the restructuring of the Big Y product resulting in a permanent $100 dollar reduction, in addition to sale prices.

FamilyTreeDNA has made a few product changes and introduced the new Tovana Health test.

I’ve included a special section of frequently asked questions (and answers) about tests and when upgrading does, and doesn’t, make sense.

Individual Tests

Let’s start with the sale prices for individual tests.

Test Sale Price Regular Price Savings
Family Finder (FF) $59 $79 $20
Y DNA 37 $99 $169 $70
Y DNA 111 *1 $199 $359 $160
Big Y-700 *2 $399 $649 $250
Mitochondrial Full Sequence *3 $139 $199 $60

*1 – You may notice that only the 37-marker and 111-marker tests are listed above. The 111-marker test was reduced to the 67-marker sale price, so, at least during the sale, the 67-marker test is not available. In other words, you get 111 markers for the price of 67.

*2 – The Big Y-700 test includes the Y 111 test plus another 589 STR markers (to equal or exceed 700 markers total) plus the SNP testing. You can read about the Big Y here.

*3 – The mitochondrial full sequence (FMS) aka mtFullSequence test is now the only mitochondrial DNA test available. I’m glad to see this change. The price of the mtFullSequence test has now dropped to the level of the less specific partial tests of yesteryear. Genealogists really need the granularity of the full test.

Bundles save even more – an additional $9 over purchasing the bundled items separately

Bundles

Test Sale Price Regular Price Savings
Family Finder + mtFullSequence $189 $278 $89
Family Finder + Y-37 $149 $248 $188
Family Finder + Y111 $249 $438 $189
Y-37 + mtFullSequence $229 $368 $139
Y-111 + mtFullSequence $329 $558 $229
Family Finder + Y-37 + mtFull $279 $447 $170
Family Finder + Y-111 + mtFull $379 $637 $258

When Does Upgrading Make Sense?

Y DNA Q&A

Q – If I have several Y DNA matches, will upgrading help?

A – If you need more specific or granular information to tease your line out of several matches – upgrading will help refine your matches and determine who is a closer match, assuming some of your matches have tested at a higher level.

Q – If I have tested at a lower level of STR markers and have no matches, will I have matches at a higher level?

A – Sometimes, but not usually. If your mutations just happen to fall in the lower panels, you may have matches on higher panels that allow for more mutations. If you do have matches on a higher test in this circumstance, the person may or may not have your surname. You can also join haplogroup and surname projects where thresholds are slightly lower for matching within projects.

If you don’t test, you’ll never know.

Q – If I have no matches on STR markers, meaning 12, 25, 37, 67 or 111, will upgrading to the Big Y be beneficial?

A – Possibly to probably – and here’s why, even if you don’t initially have matches:

  • The Big Y-700 provides multiple tools including matches at the SNP level, not just the STR level, so you are matched in two entirely different ways.
  • You may have same-surname matches at the SNP level that you do not have at the STR level which are further back in time, but still valuable and relevant to your family history.
  • You may have SNP matches that aren’t STR matches that are not your surname, but reflect your family history before the advent of surnames. These matches can tell you where your family came from before you can locate them in records. In fact, this is the ONLY way you can track your family before the advent of surnames.
  • Even if you don’t have matches, you’ll receive all of your SNP markers that allow you to view your results on the Block Tree, which is in essence a migration map back through time. You can read about the Block Tree here.
  • Your test contributes to building the phylotree – meaning the Y DNA tree of man – which benefits all genealogists. In just the first 10 months of 2019, 32,000 new SNPs have been placed on the tree, resulting in about 5,000 new individual branches. All because of Big Y-700
  • New people test every day and your DNA tests fish for you every minute of every day.

Mitochondrial DNA Q&A

If you’ve previously taken lower level mitochondrial HVR1 and HVR2 tests, now is the perfect time to upgrade.

Q – I have 5,000 <or fill in large number here> HVR1 level matches. Will upgrading reduce the number of matches to those that are more meaningful?

A – Absolutely! Your most genealogically relevant matches, meaning closest in time, are those that match you exactly at the full sequence level.

Q – I don’t know where my ancestor was from. Can a full sequence test help me?

A – Yes. You can use the Matches Map and see where the ancestors of your closest matches were from. That’s a huge hint. You can also utilize your haplogroup, which, in some instances, will point to a specific continent such as Africa, Europe, Asia or Native American and Jewish populations.

Q – If I have no matches at the HVR1 or HVR2 level? Will an upgrade help me?

A – Possibly. Both the HVR1 and HVR2 (now obsolete) tests only allowed for one mutation difference to be considered a match. The full sequence allows for many more differences. If you were unlucky and your mutations just happened to fall in the HVR1 or HVR2 levels, it would prevent a match which will occur at a higher level. Either way, you’ll receive information about your rare mutations – which may well explain why you don’t have matches (yet)! You’ll also receive a full haplogroup which will be useful, allowing you to use the mitochondrial haplotree to track back in time, which I wrote about here.

There are so many ways to obtain useful information. I wrote a step-by-step guide to using mitochondrial DNA, here.

Upgrade Options

Please note that if you are considering an upgrade, it maybe beneficial to upgrade to the maximum test available for either the Y or mitochondrial DNA, especially if you cannot obtain more of the sample. Of course, if it’s your own sample, you can always swab again, but others can’t.

Every time a vial is opened for testing, more DNA is used, until there is none left. Additionally, DNA degrades with time, depending on the quality of the original scraping and the amount of bacteria in the sample. Generally, the sample is viable for at least 5 years, but not always. Some older samples remain viable for many years. There’s no way to know in advance.

Test Sale Price Regular Price Savings
Y-12 to Y-37 $79 $109 $30
Y-12 to Y-67 $149 $199 $50
Y-12 to Y-111 $169 $359 $190
Y-25 to Y-37 $49 $59 $10
Y-25 to Y-67 $119 $159 $40
Y-25 to Y-111 $149 $269 $120
Y-37 to Y-67 $69 $109 $40
Y-37 to Y-111 $119 $228 $109
Y-67 to Y-111 $69 $99 $30
Y-12 to Big Y-700 $359 $629 $270
Y-25 to Big Y-700 $349 $599 $250
Y-37 to Big Y-700 $319 $569 $250
Y-67 to Big Y-700 $259 $499 $240
Y-111 to Big Y-700 $229 $499 $270
Big Y-500 to Big Y-700 $189 $249 $60
HVR1 to mtFullSequence $99 $159 $60
mtDNA Plus to mtFullSequence $99 $159 $60

Tovana – A New Limited Availability Exome Medical Report 

Recently, FamilyTreeDNA did a limited announcement about a medically supervised health exome health test for a subset of customers, specifically customers who:

  • Don’t live in Pennsylvania, New York, California or Maryland, due to state law restrictions.
  • Took the Family Finder test since October 2015 – meaning no transfers. The Family Finder test is used in conjunction with the exome chip to generate the customer report.

If you took the Family Finder test before October 2015, you are eligible but the rollout is being done in stages and your kit will be eligible in December.

This Tovana Genome Report is focused towards people who are health and wellness conscious. Meaning those who don’t want to die a premature death that might be preventable.

All genetic health tests focus on predispositions. You may or may not develop the condition, with a few notable exceptions, but forewarned is forearmed.

You might, however, be VERY interested in intervening, one way or another, BEFORE you develop potentially life-threatening conditions, or taking preventative actions to avoid developing those conditions. At the very least, you can be aware and monitor your health to catch them early, when they are treatable, manageable or potentially curable.

It only takes one, ONE, terrifying experience to convince you that health testing might make a difference.

Once you’re embroiled in that health nightmare, there is no going back in time to take a test and enact preventative measures.

My mother might still be with us had we known she was susceptible to blood clots. My sister had metastatic breast cancer.

Let me show you something from a Tovana report.

FTDNA Tovana.png

This portion of a page from an actual customer report shows this individual is positive for a mutation for a clotting disorder where clots are formed that can cause strokes, pulmonary embolisms and DVTs (deep vein thrombosis).

I’d give anything, any amount of money – to have had advance warning so we could have watched my mother more vigilantly and taken simple proactive measures that might have prevented her stroke and resulting death.

What would another 10 or 15 years with her have been worth?

We could have and would have discussed this with her doctors and asked about preventative measures, like taking aspirin or other measures as indicated by her health and other medications. (Please do not self-diagnose or medicate without discussing with your physician as drugs interact in ways patients may not be aware of.)

Compared to hospital (or funeral) bills, not to mention the sheer agony…the cost of this test at $799 is irrelevant. What better way to say, “I love you”?

I would pick up bottles by the side of the road, if I needed to, to be able to purchase this test for my Mom 15 years ago. Sadly, this type of testing wasn’t available then, but it is now.

Ignorance is not bliss.

I want to know if I or my children carry these predispositions so that we can take action.

The Tovana Test is Different

The Tovana test is different from and much more comprehensive than the tests offered by Ancestry, MyHeritage and 23andMe that utilize only your autosomal genealogy test.

To begin with, the Tovana test is run on an exome chip that tests over 50 million locations in addition to the 700,000+ locations tested in the Family Finder test.

The completed report that I viewed was 128 pages in length, with lots of graphics. This  explain explains autosomal dominant inheritance.

FTDNA Tovana autosomal dominant.png

The report is very user-friendly, including drawings, a risk-meter for polygenic conditions that involve more than a simple yes or no answer, explanations and recommendations for each condition reported.

FTDNA Tovana risk meter.png

And yes, in case you’re wondering, the report also includes the fun traits like ear wax and such that you can discuss if you’re bored beyond imagination at a cocktail party.

Each report is centered around and tailored to the family information you provide, such as known Jewish heritage, or known cases of cancer.

FTDNA Tovana Table of Contents.png

Comparisons

I’ve compiled a chart with some comparison details – although this test is in a class by itself where the other three tests compete directly with each other.

I’ve personally taken the other tests, except for the Ancestry upgrade. I also took an early exome test a few years ago, but THAT ONE CAME WITH NO REPORT OR EXPLANATIONS.

  23andme Ancestry Health Core MyHeritage Family Tree DNA Tovana Test
# DNA locations tested About 700,000 About 700,000 About 700,000 >50 million plus the 700,000 in the Family Finder test
# Results Provided to Customer 78 health + polygenic diabetes +34 traits such as freckles 84 88+ polygenic heart, diabetes, breast cancer 3000+ including many polygenic diseases including heart, diabetes & 35 genes associated with breast cancer
Physician Oversight No PWNHealth PWNHealth Tovana
Personal Clinical Analysis No No No Yes
Analysis, Interpretation by board certified geneticist No No No Yes
Genetic Counseling No Yes, limited Yes, limited $50 for 30-minute session
Updates Yes, episodic depending on test level, may not receive, sometimes have to purchase new test No, one time results only Yes, free for first year then with $99 per year subscription Not at this time, but under consideration
Cost – Initial Purchase $149 upgrade only after DNA test $199 new purchase -combined health plus ancestry $799 introductory price
Upgrade if Already Tested No $49 upgrade if have already tested $120 to upgrade if already tested, plus $99 year subscription after year 1 Not relevant
Requirements None This is an upgrade from an existing Ancestry test Must test with MyHeritage, not a transfer kit

Are You Eligible?

To see if you are one of the customers eligible to purchase the Tovane Genome Report, sign in, here, and then check your personal page under “Additional Features” to see if the Tovana Genome Report is available. If so, click for more information or to order.

FTDNA Tovana order.png

You’ve probably guessed what my family is receiving for Christmas😊. No one else is going to suffer from or die from something preventable if I can help it.

______________________________________________________________

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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Big Y News and Stats + Sale

I must admit – this past January when FamilyTreeDNA announced the Big Y-700, an upgrade from the Big Y-500 product, I was skeptical. I wondered how much benefit testers would really see – but I was game to purchase a couple upgrades – and I did. Then, when the results came back, I purchased more!

I’m very pleased to announce that I’m no longer skeptical. I’m a believer.

The Big Y-700 has produced amazing results – and now FamilyTreeDNA has decoupled the price of the BAM file in addition to announcing substantial sale prices for their Thanksgiving Sale.

I’m going to discuss sale pricing for products other than the Big Y in a separate article because I’d like to focus on the progress that has been made on the phylogenetic tree (and in my own family history) as a result of the Big Y-700 this year.

Big Y Pricing Structure Change

FamilyTreeDNA recently anounced some product structure changes.

The Big Y-700 price has been permanently dropped by $100 by decoupling the BAM file download from the price of the test itself. This accomplishes multiple things:

  • The majority of testers don’t want or need the BAM file, so the price of the test has been dropped by $100 permanently in order to be able to price the Big Y-700 more attractively to encourage more testers. That’s good for all of us!!!
  • For people who ordered the Big Y-700 since November 1, 2019 (when the sale prices began) who do want the BAM file, they can purchase the BAM file separately through the “Add Ons and Upgrades” page, via the “Upgrades” tab for $100 after their test results are returned. There will also be a link on the Big Y-700 results page. The total net price for those testers is exactly the same, but it represents a $100 permanent price drop for everyone else.
  • This BAM file decoupling reduces the initial cost of the Big Y-700 test itself, and everyone still has the option of purchasing the BAM file later, which will make the Big Y-700 test more affordable. Additionally, it allows the tester who wants the BAM file to divide the purchase into two pieces, which will help as well.
  • The current sale price for the Big Y-700 for the tester who has taken NO PREVIOUS Y DNA testing is now just $399, formerly $649. That’s an amazing price drop, about 40%, in the 9 months since the Big Y-700 was introduced!
  • Upgrade pricing is available too, further down in this article.
  • If you order an upgrade from any earlier Big Y to the Big Y-700, you receive an upgraded BAM file because you already paid for the BAM file when you ordered your initial Big Y test.
  • The VCF file is still available for download at no additional cost with any Big Y test.
  • There is no change in the BAM file availability for current customers. Everyone who ordered before November 1, 2019 will be able to download their BAM file as always.

The above changes are permanent, except for the sale price.

2019 has been a Banner Year

I know how successful the Big Y-700 has been for kits and projects that I manage, but how successful has it been overall, in a scientific sense?

I asked FamilyTreeDNA for some stats about the number of SNPs discovered and the number of branches added to the Y phylotree.

Drum roll please…

Branches Added This Year Total Tree Branches Variants Added to Tree This Year Total Variants Added to Tree
2018 6,259 17,958 60,468 132.634
2019 4,394 22.352 32,193 164,827

The tests completed in 2019 are only representative for 10 months, through October, and not the entire year.

Haplotree Branches

Not every SNP discovered results in a new branch being added to the haplotree, but many do. This chart shows the number of actual branches added in 2018 and 2019 to date.

Big Y 700 haplotree branches.png

These stats, provided by FamilyTreeDNA, show the totals in the bottom row, which is a cumulative branch number total, not a monthly total. At the end of October 2019, the total number of individual branches were 22,352.

Big Y 700 haplotree branches small.png

This chart, above, shows some of the smaller haplogroups.

Big Y 700 haplotree branches large.png

This chart shows the larger haplogroups, including massive haplogroup R.

Haplotree Variants

The number of variants listed below is the number of SNPs that have been discovered, named and placed on the tree. You’ll notice that these numbers are a lot larger than the number of branches, above. That’s because roughly 168,000 of these are equivalent SNPs, meaning they don’t further branch the tree – at least not yet. These 168K variants are the candidates to be new branches as more people test and the tree can be further split.

Big Y 700 variants.png

These numbers also don’t include Private Variants, meaning SNPs that have not yet been named.

If you see Private Variants listed in your Big Y results, when enough people have tested positive for the same variant, and it makes sense, the variants will be given a SNP name and placed on the tree.

Big Y 700 variants small.png

The smaller haplogroups variants again, above, followed by the larger, below.

Big Y 700 variants large.png

Upgrades from the Big Y, or Big Y-500 to Big Y-700

Based on what I see in projects, roughly one third of the Big Y and Big Y-500 tests have upgraded to the Big Y-700.

For my Estes line, I wondered how much value the Big Y-700 upgrade would convey, if any, but I’m extremely glad I upgraded several kits. As a result of the Big Y-700, we’ve further divided the sons of Abraham, born in 1747. This granularity wasn’t accomplished by STR testing and wasn’t accomplished by the Big Y or Big Y-500 testing alone – although all of these together are building blocks. I’m ECSTATIC since it’s my own ancestral line that has the new lineage defining SNP.

Big Y 700 Estes.png

Every Estes man descended from Robert born in 1555 has R-BY482.

The sons of the immigrant, Abraham, through his father, Silvester, all have BY490, but the descendants of Silvester’s brother, Robert, do not.

Moses, son of Abraham has ZS3700, but the rest of Abraham’s sons don’t.

Then, someplace in the line of kit 831469, between Moses born in 1711 and the present-day tester, we find a new SNP, BY154784.

Big Y 700 Estes block tree.png

Looking at the block tree, we see the various SNPs that are entirely Estes, except for one gentleman who does not carry the Estes surname. I wrote about the Block Tree, here.

Without Big Y testing, none of these SNPs would have been found, meaning we could never have split these lines genealogically.

Every kit I’ve reviewed carries SNPs that the Big Y-700 has been able to discern that weren’t discovered previously.

Every. Single. One.

Now, even someone who hasn’t tested Y DNA before can get the whole enchilada – meaning 700+ STRs, testing for all previously discovered SNPs, and new branch defining SNPs, like my Estes men – for $399.

If a new Estes tester takes this test, without knowing anything about his genealogy, I can tell him a great deal about where to look for his lineage in the Estes tree.

Reduced Prices

FamilyTreeDNA has made purchasing the Big Y-700 outright, or upgrading, EXTREMELY attractive.

Test Price
Big Y-700 purchase with no previous Y DNA test

 

$399
Y-12 upgrade to Big Y-700 $359
Y-25 upgrade to Big Y-700 $349
Y-37 upgrade to Big Y-700 $319
Y-67 upgrade to Big Y-700 $259
Y-111 upgrade to Big Y-700 $229
Big Y or Big Y-500 upgrade to Big Y-700 $189

Note that the upgrades include all of the STR markers as yet untested. For example, the 12-marker to Big Y-700 includes all of the STRs between 25 and 111, in addition to the Big Y-700 itself. The Big Y-700 includes:

  • All of the already discovered SNPs, called Named Variants, extending your haplogroup all the way to the leaf at the end of your branch
  • Personal and previously undiscovered SNPs called Private Variants
  • All of the untested STR markers inclusive through 111 markers
  • A minimum of a total of 700 STR markers, including markers above 111 that are only available through Big Y-700 testing

With the refinements in the Big Y test over the past few years, and months, the Big Y is increasingly important to genealogy – equally or more so than traditional STR testing. In part, because SNPs are not prone to back mutations, and are therefore more stable than STR markers. Taken together, STRs and SNPs are extremely informative, helping to break down ancestral brick walls for people whose genealogy may not reach far back in time – and even those who do.

If you are a male and have not Y DNA tested, there’s never been a better opportunity. If you are a female, find a male on a brick wall line and sponsor a scholarship.

Click here to order or upgrade!

______________________________________________________________

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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

DNA File Upload-Download and Transfer Instructions to and from DNA Testing Companies

Upload download.pngSome of my most popular articles are the instructions for how to download your DNA files from the various vendors in order to upload and transfer your DNA files to other vendors to obtain more matches.

Now, I’ve put the instructions for all the vendors together in one place. Feel free to share with your friends, family and groups by posting the link to this article.

Why Transfer?

People test at multiple vendors or transfer their files in order to:

  • Take advantage of unique features at each vendor
  • Match against people in each database that haven’t tested elsewhere
  • Benefit from the lower cost of transfers as compared to testing at each vendor

Transfers themselves along with matching is free, but more advanced features require either a full subscription (MyHeritage,) a monthly subscription (GedMatch) or a one-time unlock fee (Family Tree DNA or MyHeritage without a subscription.)

Vendors who welcome uploads and have a full suite of products are:

GedMatch is not a testing vendor. Customers only transfer files from other vendors TO GedMatch to use their tools, not from GedMatch.

Vendors who don’t allow uploads, meaning you must test there, are:

Download and Upload Instructions

Transferring your DNA consists of downloading your raw DNA data file from one vendor and uploading the file to another vendor’s system.

This process does NOT delete your DNA file or results from the original system. That’s an entirely different process, not related to a file download.

Here’s how to transfer – with individual steps for downloading from and uploading to each vendor:

How many new matches will you receive by transferring to each vendor?

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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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Hit a Genetic Genealogy Home Run Using Your Double-Sided Two-Faced Chromosomes While Avoiding Imposters

Do you want to hit a home run with your DNA test, but find yourself a mite bewildered?

Yep, those matches can be somewhat confusing – especially if you don’t understand what’s going on. Do you have a nagging feeling that you might be missing something?

I’m going to explain chromosome matching, and its big sister, triangulation, step by step to remove any confusion, to help you sort through your matches and avoid imposters.

This article is one of the most challenging I’ve ever written – in part because it’s a concept that I’m so familiar with but can be, and is, misinterpreted so easily. I see mistakes and confusion daily, which means that resulting conclusions stand a good chance of being wrong.

I’ve tried to simplify these concepts by giving you easy-to-use memory tools.

There are three key phrases to remember, as memory-joggers when you work through your matches using a chromosome browser: double-sided, two faces and imposter. While these are “cute,” they are also quite useful.

When you’re having a confusing moment, think back to these memory-jogging key words and walk yourself through your matches using these steps.

These three concepts are the foundation of understanding your matches, accurately, as they pertain to your genealogy. Please feel free to share, link or forward this article to your friends and especially your family members (including distant cousins) who work with genetic genealogy. 

Now, it’s time to enjoy your double-sided, two-faced chromosomes and avoid those imposters:)

Are you ready? Grab a nice cup of coffee or tea and learn how to hit home runs!

Double-Sided – Yes, Really

Your chromosomes really are double sided, and two-faced too – and that’s a good thing!

However, it’s initially confusing because when we view our matches in a chromosome browser, it looks like we only have one “bar” or chromosome and our matches from both our maternal and paternal sides are both shown on our one single bar.

How can this be? We all have two copies of chromosome 1, one from each parent.

Chromosome 1 match.png

This is my chromosome 1, with my match showing in blue when compared to my chromosome, in gray, as the background.

However, I don’t know if this blue person matches me on my mother’s or father’s chromosome 1, both of which I inherited. It could be either. Or neither – meaning the dreaded imposter – especially that small blue piece at left.

What you’re seeing above is in essence both “sides” of my chromosome number 1, blended together, in one bar. That’s what I mean by double-sided.

There’s no way to tell which side or match is maternal and which is paternal without additional information – and misunderstanding leads to misinterpreting results.

Let’s straighten this out and talk about what matches do and don’t mean – and why they can be perplexing. Oh, and how to discover those imposters!

Your Three Matches

Let’s say you have three matches.

At Family Tree DNA, the example chromosome browser I’m using, or at any vendor with a chromosome browser, you select your matches which are viewed against your chromosomes. Your chromosomes are always the background, meaning in this case, the grey background.

Chromosome 1-4.png

  • This is NOT three copies each of your chromosomes 1, 2, 3 and 4.
  • This is NOT displaying your maternal and paternal copies of each chromosome pictured.
  • We CANNOT tell anything from this image alone relative to maternal and paternal side matches.
  • This IS showing three individual people matching you on your chromosome 1 and the same three people matching you in the same order on every chromosome in the picture.

Let’s look at what this means and why we want to utilize a chromosome browser.

I selected three matches that I know are not all related through the same parent so I can demonstrate how confusing matches can be sorted out. Throughout this article, I’ve tried to explain each concept in at least two ways.

Please note that I’m using only chromsomes 1-4 as examples, not because they are any more, or less, important than the other chromosomes, but because showing all 22 would not add any benefit to the discussion. The X chromosome has a separate inheritance path and I wrote about that here.

Let’s start with a basic question.

Why Would I Want to Use a Chromosome Browser?

Genealogists view matches on chromosome browsers because:

  • We want to see where our matches match us on our chromosomes
  • We’d like to identify our common ancestor with our match
  • We want to assign a matching segment to a specific ancestor or ancestral line, which confirmed those ancestors as ours
  • When multiple people match us on the same location on the chromosome browser, that’s a hint telling us that we need to scrutinize those matches more closely to determine if those people match us on our maternal or paternal side which is the first step in assigning that segment to an ancestor

Once we accurately assign a segment to an ancestor, when anyone else matches us (and those other people) on that same segment, we know which ancestral line they match through – which is a great head start in terms of identifying our common ancestor with our new match.

That’s a genetic genealogy home run!

Home Runs 

There are four bases in a genetic genealogy home run.

  1. Determine whether you actually match someone on the same segment
  2. Which is the first step in determining that you match a group of people on the same segment
  3. And that you descend from a common ancestor
  4. The fourth step, or the home run, is to determine which ancestor you have in common, assigning that segment to that ancestor

If you can’t see segment information, you can’t use a chromosome browser and you can’t confirm the match on that segment, nor can you assign that segment to a particular ancestor, or ancestral couple.

The entire purpose of genealogy is to identify and confirm ancestors. Genetic genealogy confirms the paper trail and breaks down even more brick walls.

But before you can do that, you have to understand what matches mean and how to use them.

The first step is to understand that our chromosomes are double-sided and you can’ t see both of your chromosomes at once!

Double Sided – You Can’t See Both of Your Chromosomes at Once

The confusing part of the chromosome browser is that it can only “see” your two chromosomes blended as one. They are both there, but you just can’t see them separately.

Here’s the important concept:

You have 2 copies of chromosomes 1 through 22 – one copy that you received from your mother and one from your father, but you can’t “see” them separately.

When your DNA is sequenced, your DNA from your parents’ chromosomes emerges as if it has been through a blender. Your mother’s chromosome 1 and your father’s chromosome 1 are blended together. That means that without additional information, the vendor can’t tell which matches are from your father’s side and which are from your mother’s side – and neither can you.

All the vendor can tell is that someone matches you on the blended version of your parents. This isn’t a negative reflection on the vendors, it’s just how the science works.

Chromosome 1.png

Applying this to chromosome 1, above, means that each segment from each person, the blue person, the red person and the teal person might match you on either one of your chromosomes – the paternal chromosome or the maternal chromosome – but because the DNA of your mother and father are blended – there’s no way without additional information to sort your chromosome 1 into a maternal and paternal “side.”

Hence, you’re viewing “one” copy of your combined chromosomes above, but it’s actually “two-sided” with both maternal and paternal matches displayed in the chromosome browser.

Parent-Child Matches

Let’s explain this another way.

Chromosome parent.png

The example above shows one of my parents matching me. Don’t be deceived by the color blue which is selected randomly. It could be either parent. We don’t know.

You can see that I match my parent on the entire length of chromosome 1, but there is no way for me to tell if I’m looking at my mother’s match or my father’s match, because both of my parents (and my children) will match me on exactly the same locations (all of them) on my chromosome 1.

Chromosome parent child.png

In fact, here is a combination of my children and my parents matching me on my chromosome 1.

To sort out who is matching on paternal and maternal chromosomes, or the double sides, I need more information. Let’s look at how inheritance works.

Stay with me!

Inheritance Example

Let’s take a look at how inheritance works visually, using an example segment on chromosome 1.

Chromosome inheritance.png

In the example above:

  • The first column shows addresses 1-10 on chromosome 1. In this illustration, we are only looking at positions, chromosome locations or addresses 1-10, but real chromosomes have tens of thousands of addresses. Think of your chromosome as a street with the same house numbers on both sides. One side is Mom’s and one side is Dad’s, but you can’t tell which is which by looking at the house numbers because the house numbers are identical on both sides of the street.
  • The DNA pieces, or nucleotides (T, A, C or G,) that you received from your Mom are shown in the column labeled Mom #1, meaning we’re looking at your mother’s pink chromosome #1 at addresses 1-10. In our example she has all As that live on her side of the street at addresses 1-10.
  • The DNA pieces that you received from your Dad are shown in the blue column and are all Cs living on his side of the street in locations 1-10.

In other words, the values that live in the Mom and Dad locations on your chromosome streets are different. Two different faces.

However, all that the laboratory equipment can see is that there are two values at address 1, A and C, in no particular order. The lab can’t tell which nucleotide came from which parent or which side of the street they live on.

The DNA sequencer knows that it found two values at each address, meaning that there are two DNA strands, but the output is jumbled, as shown in the First and Second read columns. The machine knows that you have an A and C at the first address, and a C and A at the second address, but it can’t put the sequence of all As together and the sequence of all Cs together. What the sequencer sees is entirely unordered.

This happens because your maternal and paternal DNA is mixed together during the extraction process.

Chromosome actual

Click to enlarge image.

Looking at the portion of chromosome 1 where the blue and teal people both match you – your actual blended values are shown overlayed on that segment, above. We don’t know why the blue and the teal people are matching you. They could be matching because they have all As (maternal), all Cs (paternal) or some combination of As and Cs (a false positive match that is identical by chance.)

There are only two ways to reassemble your nucleotides (T, A, C, and G) in order and then to identify the sides as maternal and paternal – phasing and matching.

As you read this next section, it does NOT mean that you must have a parent for a chromosome browser to be useful – but it does mean you need to understand these concepts.

There are two types of phasing.

Parental Phasing

  • Parental Phasing is when your DNA is compared against that of one or both parents and sorted based on that comparison.

Chromosome inheritance actual.png

Parental phasing requires that at least one parent’s DNA is available, has been sequenced and is available for matching.

In our example, Dad’s first 10 locations (that you inherited) on chromosome 1 are shown, at left, with your two values shown as the first and second reads. One of your read values came from your father and the other one came from your mother. In this case, the Cs came from your father. (I’m using A and C as examples, but the values could just as easily be T or G or any combination.)

When parental phasing occurs, the DNA of one of your parents is compared to yours. In this case, your Dad gave you a C in locations 1-10.

Now, the vendor can look at your DNA and assign your DNA to one parent or the other. There can be some complicating factors, like if both your parents have the same nucleotides, but let’s keep our example simple.

In our example above, you can see that I’ve colored portions of the first and second strands blue to represent that the C value at that address can be assigned through parental phasing to your father.

Conversely, because your mother’s DNA is NOT available in our example, we can’t compare your DNA to hers, but all is not lost. Because we know which nucleotides came from your father, the remaining nucleotides had to come from your mother. Hence, the As remain after the Cs are assigned to your father and belong to your mother. These remaining nucleotides can logically be recombined into your mother’s DNA – because we’ve subtracted Dad’s DNA.

I’ve reassembled Mom, in pink, at right.

Statistical/Academic Phasing

  • A second type of phasing uses something referred to as statistical or academic phasing.

Statistical phasing is less successful because it uses statistical calculations based on reference populations. In other words, it uses a “most likely” scenario.

By studying reference populations, we know scientifically that, generally, for our example addresses 1-10, we either see all As or all Cs grouped together.

Based on this knowledge, the Cs can then logically be grouped together on one “side” and As grouped together on the other “side,” but we still have no way to know which side is maternal or paternal for you. We only know that normally, in a specific population, we see all As or all Cs. After assigning strings or groups of nucleotides together, the algorithm then attempts to see which groups are found together, thereby assigning genetic “sides.” Assigning the wrong groups to the wrong side sometimes happens using statistical phasing and is called strand swap.

Once the DNA is assigned to physical “sides” without a parent or matching, we still can’t identify which side is paternal and which is maternal for you.

Statistical or academic phasing isn’t always accurate, in part because of the differences found in various reference populations and resulting admixture. Sometimes segments don’t match well with any population. As more people test and more reference populations become available, statistical/academic phasing improves. 23andMe uses academic phasing for ethnicity, resulting in a strand swap error for me. Ancestry uses academic phasing before matching.

By comparison to statistical or academic phasing, parental phasing with either or both parents is highly accurate which is why we test our parents and grandparents whenever possible. Even if the vendor doesn’t use our parents’ results, we certainly can!

If someone matches you and your parent too, you know that match is from that parent’s side of your tree.

Matching

The second methodology to sort your DNA into maternal and paternal sides is matching, either with or without your parents.

Matching to multiple known relatives on specific segments assigns those segments of your DNA to the common ancestor of those individuals.

In other words, when I match my first cousin, and our genealogy indicates that we share grandparents – assuming we match on the appropriate amount of DNA for the expected relationship – that match goes a long way to confirming our common ancestor(s).

The closer the relationship, the more comfortable we can be with the confirmation. For example, if you match someone at a parental level, they must be either your biological mother, father or child.

While parent, sibling and close relationships are relatively obvious, more distant relationships are not and can occur though unknown or multiple ancestors. In those cases, we need multiple matches through different children of that ancestor to reasonably confirm ancestral descent.

Ok, but how do we do that? Let’s start with some basics that can be confusing.

What are we really seeing when we look at a chromosome browser?

The Grey/Opaque Background is Your Chromosome

It’s important to realize that you will see as many images of your chromosome(s) as people you have selected to match against.

This means that if you’ve selected 3 people to match against your chromosomes, then you’ll see three images of your chromosome 1, three images of your chromosome 2, three images of your chromosome 3, three images of your chromosome 4, and so forth.

Remember, chromosomes are double-sided, so you don’t know whether these are maternal or paternal matches (or imposters.)

In the illustration below, I’ve selected three people to match against my chromosomes in the chromosome browser. One person is shown as a blue match, one as a red match, and one as a teal match. Where these three people match me on each chromosome is shown by the colored segments on the three separate images.

Chromosome 1.png

My chromosome 1 is shown above. These images are simply three people matching to my chromosome 1, stacked on top of each other, like cordwood.

The first image is for the blue person. The second image is for the red person. The third image is for the teal person.

If I selected another person, they would be assigned a different color (by the system) and a fourth stacked image would occur.

These stacked images of your chromosomes are NOT inherently maternal or paternal.

In other words, the blue person could match me maternally and the red person paternally, or any combination of maternal and paternal. Colors are not relevant – in other words colors are system assigned randomly.

Notice that portions of the blue and teal matches overlap at some of the same locations/addresses, which is immediately visible when using a chromosome browser. These areas of common matching are of particular interest.

Let’s look closer at how chromosome browser matching works.

What about those colorful bars?

Chromosome Browser Matching

When you look at your chromosome browser matches, you may see colored bars on several chromosomes. In the display for each chromosome, the same color will always be shown in the same order. Most people, unless very close relatives, won’t match you on every chromosome.

Below, we’re looking at three individuals matching on my chromosomes 1, 2, 3 and 4.

Chromosome browser.png

The blue person will be shown in location A on every chromosome at the top. You can see that the blue person does not match me on chromosome 2 but does match me on chromosomes 1, 3 and 4.

The red person will always be shown in the second position, B, on each chromosome. The red person does not match me on chromosomes 2 or 4.

The aqua person will always be shown in position C on each chromosome. The aqua person matches me on at least a small segment of chromosomes 1-4.

When you close the browser and select different people to match, the colors will change and the stacking order perhaps, but each person selected will always be consistently displayed in the same position on all of your chromosomes each time you view.

The Same Address – Stacked Matches

In the example above, we can see that several locations show stacked segments in the same location on the browser.

Chromosome browser locations.png

This means that on chromosome 1, the blue and green person both match me on at least part of the same addresses – the areas that overlap fully. Remember, we don’t know if that means the maternal side or the paternal side of the street. Each match could match on the same or different sides.

Said another way, blue could be maternal and teal could be paternal (or vice versa,) or both could be maternal or paternal. One or the other or both could be imposters, although with large segments that’s very unlikely.

On chromosome 4, blue and teal both match me on two common locations, but the teal person extends beyond the length of the matching blue segments.

Chromosome 3 is different because all three people match me at the same address. Even though the red and teal matching segments are longer, the shared portion of the segment between all three people, the length of the blue segment, is significant.

The fact that the stacked matches are in the same places on the chromosomes, directly above/below each other, DOES NOT mean the matches also match each other.

The only way to know whether these matches are both on one side of my tree is whether or not they match each other. Do they look the same or different? One face or two? We can’t tell from this view alone.

We need to evaluate!

Two Faces – Matching Can be Deceptive!

What do these matches mean? Let’s ask and answer a few questions.

  • Does a stacked match mean that one of these people match on my mother’s side and one on my father’s side?

They might, but stacked matches don’t MEAN that.

If one match is maternal, and one is paternal, they still appear at the same location on your chromosome browser because Mom and Dad each have a side of the street, meaning a chromosome that you inherited.

Remember in our example that even though they have the same street address, Dad has blue Cs and Mom has pink As living at that location. In other words, their faces look different. So unless Mom and Dad have the same DNA on that entire segment of addresses, 1-10, Mom and Dad won’t match each other.

Therefore, my maternal and paternal matches won’t match each other either on that segment either, unless:

  1. They are related to me through both of my parents and on that specific location.
  2. My mother and father are related to each other and their DNA is the same on that segment.
  3. There is significant endogamy that causes my parents to share DNA segments from their more distant ancestors, even though they are not related in the past few generations.
  4. The segments are small (segments less than 7cM are false matches roughly 50% of the time) and therefore the match is simply identical by chance. I wrote about that here. The chart showing valid cM match percentages is shown here, but to summarize, 7-8 cMs are valid roughly 46% of the time, 8-9 cM roughly 66%, 9-10 cM roughly 91%, 10-11 cM roughly 95, but 100 is not reached until about 20 cM and I have seen a few exceptions above that, especially when imputation is involved.

Chromosome inheritance match.png

In this inheritance example, we see that pink Match #1 is from Mom’s side and matches the DNA I inherited from pink Mom. Blue Match #2 is from Dad’s side and matches the DNA I inherited from blue Dad. But as you can see, Match #1 and Match #2 do not match each other.

Therefore, the address is only half the story (double-sided.)

What lives at the address is the other half. Mom and Dad have two separate faces!

Chromosome actual overlay

Click to enlarge image

Looking at our example of what our DNA in parental order really looks like on chromosome 1, we see that the blue person actually matches on my maternal side with all As, and the teal person on the paternal side with all Cs.

  • Does a stacked match on the chromosome browser mean that two people match each other?

Sometimes it happens, but not necessarily, as shown in our example above. The blue and teal person would not match each other. Remember, addresses (the street is double-sided) but the nucleotides that live at that address tell the real story. Think two different looking faces, Mom’s and Dad’s, peering out those windows.

If stacked matches match each other too – then they match me on the same parental side. If they don’t match each other, don’t be deceived just because they live at the same address. Remember – Mom’s and Dad’s two faces look different.

For example, if both the blue and teal person match me maternally, with all As, they would also match each other. The addresses match and the values that live at the address match too. They look exactly the same – so they both match me on either my maternal or paternal side – but it’s up to me to figure out which is which using genealogy.

Chromosome actual maternal.png

Click to enlarge image

When my matches do match each other on this segment, plus match me of course, it’s called triangulation.

Triangulation – Think of 3

If my two matches match each other on this segment, in addition to me, it’s called triangulation which is genealogically significant, assuming:

  1. That the triangulated people are not closely related. Triangulation with two siblings, for example, isn’t terribly significant because the common ancestor is only their parents. Same situation with a child and a parent.
  2. The triangulated segments are not small. Triangulation, like matching, on small segments can happen by chance.
  3. Enough people triangulate on the same segment that descends from a common ancestor to confirm the validity of the common ancestor’s identity, also confirming that the match is identical by descent, not identical by chance.

Chromosome inheritance triangulation.png

The key to determining whether my two matches both match me on my maternal side (above) or paternal side is whether they also match each other.

If so, assuming all three of the conditions above are true, we triangulate.

Next, let’s look at a three-person match on the same segment and how to determine if they triangulate.

Three Way Matching and Identifying Imposters

Chromosome 3 in our example is slightly different, because all three people match me on at least a portion of that segment, meaning at the same address. The red and teal segments line up directly under the blue segment – so the portion that I can potentially match identically to all 3 people is the length of the blue segment. It’s easy to get excited, but don’t get excited quite yet.

Chromosome 3 way match.png

Given that three people match me on the same street address/location, one of the following three situations must be true:

  • Situation 1- All three people match each other in addition to me, on that same segment, which means that all three of them match me on either the maternal or paternal side. This confirms that we are related on the same side, but not how or which side.

Chromosome paternal.png

In order to determine which side, maternal or paternal, I need to look at their and my genealogy. The blue arrows in these examples mean that I’ve determined these matches to all be on my father’s side utilizing a combination of genealogy plus DNA matching. If your parent is alive, this part is easy. If not, you’ll need to utilize common matching and/or triangulation with known relatives.

  • Situation 2 – Of these three people, Cheryl, the blue bar on top, matches me but does not match the other two. Charlene and David, the red and teal, match each other, plus me, but not Cheryl.

Chromosome maternal paternal.png

This means that at least either my maternal or paternal side is represented, given that Charlene and David also match each other. Until I can look at the identity of who matches, or their genealogy, I can’t tell which person or people descend from which side.

In this case, I’ve determined that Cheryl, my first cousin, with the pink arrow matches me on Mom’s side and Charlene and David, with the blue arrows, match me on Dad’s side. So both my maternal and paternal sides are represented – my maternal side with the pink arrow as well as my father’s side with the blue arrows.

If Cheryl was a more distant match, I would need additional triangulated matches to family members to confirm her match as legitimate and not a false positive or identical by chance.

  • Situation 3 – Of the three people, all three match me at the same addresses, but none of the three people match each other. How is this even possible?

Chromosome identical by chance.png

This situation seems very counter-intuitive since I have only 2 chromosomes, one from Mom and one from Dad – 2 sidesof the street. It is confusing until you realize that one match (Cheryl and me, pink arrow) would be maternal, one would be paternal (Charlene and me, blue arrow) and the third (David and me, red arrows) would have DNA that bounces back and forth between my maternal and paternal sides, meaning the match with David is identical by chance (IBC.)

This means the third person, David, would match me, but not the people that are actually maternal and paternal matches. Let’s take a look at how this works

Chromosome maternal paternal IBC.png

The addresses are the same, but the values that live at the addresses are not in this third scenario.

Maternal pink Match #1 is Cheryl, paternal blue Match #2 is Charlene.

In this example, Match #3, David, matches me because he has pink and blue at the same addresses that Mom and Dad have pink and blue, but he doesn’t have all pink (Mom) nor all blue (Dad), so he does NOT match either Cheryl or Charlene. This means that he is not a valid genealogical match – but is instead what is known as a false positive – identical by chance, not by descent. In essence, a wily genetic imposter waiting to fool unwary genealogists!

In his case, David is literally “two-faced” with parts of both values that live in the maternal house and the paternal house at those addresses. He is a “two-faced imposter” because he has elements of both but isn’t either maternal or paternal.

This is the perfect example of why matching and triangulating to known and confirmed family members is critical.

All three people, Cheryl, Charlene and David match me (double sided chromosomes), but none of them match each other (two legitimate faces – one from each parent’s side plus one imposter that doesn’t match either the legitimate maternal or paternal relatives on that segment.)

Remember Three Things

  1. Double-Sided – Mom and Dad both have the same addresses on both sides of each chromosome street.
  2. Two Legitimate Faces – The DNA values, nucleotides, will have a unique pattern for both your Mom and Dad (unless they are endogamous or related) and therefore, there are two legitimate matching patterns on each chromsome – one for Mom and one for Dad. Two legitimate and different faces peering out of the houses on Mom’s side and Dad’s side of the street.
  3. Two-Faced Imposters – those identical by chance matches which zig-zag back and forth between Mom and Dad’s DNA at any given address (segment), don’t match confirmed maternal and paternal relatives on the same segment, and are confusing imposters.

Are you ready to hit your home run?

What’s Next?

Now that we understand how matching and triangulation works and why, let’s put this to work at the vendors. Join me for my article in a few days, Triangulation in Action at Family Tree DNA, MyHeritage, 23andMe and GedMatch.

We will step through how triangulation works at each vendor. You’ll have matches at each vendor that you don’ t have elsewhere. If you haven’t transferred your DNA file yet, you still have time with the step by step instructions below:

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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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

DNAPainter Instructions and Resources

DNAPainter garden

DNAPainter is one of my favorite tools because DNAPainter, just as its name implies, facilitates users painting their matches’ segments on their various chromosomes. It’s genetic art and your ancestors provide the paint!

People use DNAPainter in different ways for various purposes. I utilize DNAPainter to paint matches with whom I’ve identified a common ancestor and therefore know the historical “identity” of the ancestors who contributed that segment.

Those colors in the graphic above are segments identified to different ancestors through DNA matching.

DNAPainter includes:

  • The ability to paint or map your chromosomes with your matching segments as well as your ethnicity segments
  • The ability to upload or create trees and mark individuals you’ve confirmed as your genetic ancestors
  • A number of tools including the Shared cM Tool to show ranges of relationships based on your match level and WATO (what are the odds) tool to statistically predict or estimate various positions in a family based on relationships to other known family members

A Repository

I’ve created this article as a quick-reference instructional repository for the articles I’ve written about DNAPainter. As I write more articles, I’ll add them here as well.

  • The Chromosome Sudoku article introduced DNAPainter and how to use the tool. This is a step-by-step guide for beginners.

DNA Painter – Chromosome Sudoku for Genetic Genealogy Addicts

  • Where do you find those matches to paint? At the vendors such as Family Tree DNA, MyHeritage, 23andMe and GedMatch, of course. The Mining Vendor Matches article explains how.

DNAPainter – Mining Vendor Matches to Paint Your Chromosomes

  • Touring the Chromosome Garden explains how to interpret the results of DNAPainter, and how automatic triangulation just “happens” as you paint. I also discuss ethnicity painting and how to handle questionable ancestors.

DNA Painter – Touring the Chromosome Garden

  • You can prove or disprove a half-sibling relationship using DNAPainter – for you and also for other people in your tree.

Proving or Disproving a Half Sibling Relationship Using DNAPainter

  • Not long after Dana Leeds introduced The Leeds Method of clustering matches into 4 groups representing your 4 grandparents, I adapted her method to DNAPainter.

DNAPainter: Painting the Leeds Method Matches

  • Ethnicity painting is a wonderful tool to help identify Native American or minority ancestry segments by utilizing your estimated ethnicity segments. Minority in this context means minority to you.

Native American and Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments

  • Creating a tree or uploading a GEDCOM file provides you with Ancestral Trees where you can indicate which people in your tree are genetically confirmed as your ancestors.

DNAPainter: Ancestral Trees

  • Of course, the key to DNA painting is to have as many matches and segments as possible identified to specific ancestors. In order to do that, you need to have your DNA working for you at as many vendors as possible that provide you with matching and a chromosome browser. Ancestry does not have a browser or provide specific paintable segment information, but the other major vendors do, and you can transfer Ancestry results elsewhere.

DNAPainter: Painting “Bucketed” Family Tree DNA Maternal and Paternal Family Finder Matches in One Fell Swoop

  • Family Tree DNA offers the wonderful feature of assigning your matches to either a maternal or paternal bucket if you connect 4th cousins or closer on your tree. Until now, there was no way to paint that information at DNAPainter en masse, only manually one at a time. DNAPainter’s new tool facilitates a mass painting of phased, parentally bucketed matches to the appropriate chromosome – meaning that triangulation groups are automatically formed!

Triangulation in Action at DNAPainter

  • DNAPainter provides the ability to triangulate “automatically” when you paint your segments as long as you know which side, maternal or paternal, the match originates. Looking at the common ancestors of your matches on a specific segments tracks that segment back in time to its origins. Painting matches from all vendors who provide segment information facilitates once single repository for walking your DNA information back in time.

DNA Transfers

Some vendors don’t require you to test at their company and allow transfers into their systems from other vendors. Those vendors do charge a small fee to unlock their advanced features, but not as much as testing there.

Ancestry and 23andMe DO NOT allow transfers of DNA from other vendors INTO their systems, but they do allow you to download your raw DNA file to transfer TO other vendors.

Family Tree DNA, MyHeritage and GedMatch all 3 accept files uploaded FROM other vendors. Family Tree DNA and MyHeritage also allow you to download your raw data file to transfer TO other vendors.

These articles provide step-by-step instructions how to download your results from the various vendors and how to upload to that vendor, when possible.

Here are some suggestions about DNA testing and a transfer strategy:

Paint and have fun!!!

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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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