Search Techniques for Y and Mitochondrial DNA Test Candidates

I utilize DNA matches in various ways, some of which are a little unusual. In many cases, I mine autosomal DNA matches to search for people whose Y and mitochondrial DNA can provide descendants, including me and them, with additional insights into our common ancestors.

Y and mitochondrial DNA connects testers to their ancestors in ways that autosomal cannot. It’s a different type of DNA, not combined with the DNA of the other parent, so it’s not diluted and halved in each generation like autosomal DNA. Y and mitochondrial lines each descend from only one ancestral line, rich in historical information, with the ability to reach far back in time along with the ability to connect testers recently.

You First

The very first thing you can do to further your own research is to test yourself in three ways:

  • Autosomal DNA – Test at all 4 primary testing vendors, meaning FamilyTreeDNA, MyHeritage, Ancestry and 23andMe. The reason for testing at (or transferring to) multiple vendors is because they each have a unique focus and tools. Perhaps more importantly, they each have different people in their databases. Each testing company has benefits. FamilyTreeDNA has people who tested as long as 20 years ago and are no longer available for testing. MyHeritage has many European testers and you’ll find matches there that you won’t find elsewhere if your ancestors came from Europe. Ancestry has the largest database, but fewer advanced tools.
  • Full Sequence Mitochondrial DNA Available at FamilyTreeDNA, this test allows focus solely on your matrilineal line, meaning your mother’s mother’s mother’s line directly without confusion introduced by DNA from other lines.
  • Y DNA – For males only, also available at FamilyTreeDNA, provides focus on the direct patrilineal, or surname, line.

Obviously, if you haven’t upgraded your own Y and mitochondrial DNA tests to the highest level possible, the first thing you can do is to test or upgrade to the highest level where you receive the most refined amount of information.

(There’s a sale at FamilyTreeDNA right now, lasting until August 31, 2020, so it’s a great time to upgrade or order Y and mitochondrial. Check it out here.)

Different Kinds of DNA Serve Different Genealogical Purposes

Let’s look, briefly at how the various types of DNA tests benefit genealogy. Autosomal tests that you and family members can take will help you find other family members to test for specific Y and mitochondrial DNA lines.

Remember that you can test family members in addition to yourself, so if you’re a female, you may want to recruit your father or an uncle or brother to represent your patrilineal line DNA. If you’d like to read a brief article about the different types of DNA and their benefits, 4 Kinds of DNA for Genetic Genealogy is a good resource.

Y and Mito Pedigree.png

In this image, you can see that if you’re a male you can test for both your Y (blue-square) and mitochondrial DNA (red-circle) ancestral lines. If you’re a female, you can test only your mitochondrial DNA because females don’t have a Y chromosome. Both males and females, of course, can test (green) autosomal DNA which reveals a different type of connection to all of your ancestral lines, but with autosomal, you have to figure out which people match you on which lines.

Y and mitochondrial DNA provides you with a different type of information about laser-focused specific lines that you can’t obtain through autosomal testing, and reaches back in time far beyond the curtain when surnames were adopted.

personal pedigree

You personally can only test for the red-circle mitochondrial DNA line, and perhaps the blue-square Y DNA line if you’re a male. Unless you find family members to test for the Y and mitochondrial DNA of your ancestors, you’re leaving valuable information unresearched. That means all those colored boxes and squares that aren’t blue or red.

I’ve solved MANY brick walls using both Y and mitochondrial DNA, often in conjunction with autosomal.

Let’s take a look at each type of DNA testing a little more in-depth, so that you understand how each one works and why they are important to genealogy.

The Specifics

Y DNA – Y DNA descends through the direct male paternal line and is inherited by men only. You match against other Y DNA testers, hopefully finding surname links.

The Big Y test and upgrade at FamilyTreeDNA provides testers with all 111 traditional STR markers, plus another 589+ STRs available only in the Big Y test, plus a scan of the balance of the rest of the Y chromosome that is useful for genealogy. SNP results are increasingly being used for genealogy, in addition to STRs.

SNPs group men into genetic lineages and STRs help with defining and refining the closest generations when matching to each other. Often, the benefits of these two tests overlap, which is why I recommend that males test to the Big Y-700 level which provides 700+ STR markers plus all SNPs with mutations that define ancestral lineages.

Y DNA haplogroups, derived from SNPs, reveal the geographic part of the world where the lineage originated, such as Europe, the Americas, Asia and Africa, as well as a migration path across the continents based on where SNPs are and were historically found. Ancient DNA samples are being added to the database.

If you or a family member took an earlier Y DNA test, you can upgrade to the Big Y-700 today which provides you with matching for both the STR markers and separately, SNP markers, along with other genealogical tools.

You can order or upgrade your Y DNA here. Don’t forget family members accounts you may control. They may agree to have their kit upgraded too.

To upgrade, sign in to your account, and click on your desired upgrade level under Y DNA testing.

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Then click on upgrades.

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I wrote about Y DNA in these recent articles:

I have more Y DNA articles planned for the future.

You can search for additional articles by going to the main page of this blog and enter “Y DNA” into the search box for additional articles already published.

Many features such as the matches maps, haplogroup origins and ancestral origins pages are the same for Y DNA results as mitochondrial DNA results. You can view mitochondrial articles here.

Mitochondrial DNA (mtDNA) – Mitochondrail DNA descends through the direct matrilineal line to both sexes of children. Everyone has mitochondrial DNA and it is inherited matrilineally by you from your mother, from her mother, from her mother, etc.

The FMS or full mitochondrial sequence DNA test tests the entire mitochondria that provides information about your direct matrilineal line. Family Tree DNA provides matching, which can sometimes lead to genealogical breakthroughs such as when I identified Lydia Brown, the mother of my Phoebe Crumley and then a couple years later, her mother, Phoebe Cole – via mitochondrial DNA. Those discoveries led us to her mother, Mary Mercy Kent, via genealogy records. All we needed was to punch our way through that initial brick wall – and mitochondrial DNA was our battering ram.

Additionally, you’ll receive a full haplogroup designation which allows you to look back in time before the advent of surnames and identifies the location where your ancestral line came from. For those seeking confirmation of Native American heritage, Y and mitochondrial DNA provides unquestionable proof and doesn’t wash out in time as autosomal DNA does.

Mitochondrial DNA includes haplogroups, matching and other genealogical tools.

You can order or upgrade you or a family member’s mitochondrial DNA here.

To upgrade, sign in to your account, and click on the desired upgrade level.

ymt mt upgrade

Then click on Upgrade if you’re upgrading or Add On if you’re ordering a new product for yourself.

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I wrote several mitochondrial DNA articles and compiled them into a summary article for your convenience.

Autosomal DNA – With autosomal DNA testing, you test once and there’s not an upgrade unless the vendor changes DNA testing platforms, which is rare. Each of the four vendors compares your DNA with all other people who’ve taken that test, or transferred from other companies. They match you with descendants from all of your ancestral lines. While the Y and mtDNA tests look back deeply in time as well as recently on one specific line, the autosomal tests are broad but not deep, spanning all ancestral lines, but limited to approximately 10 generations.

Each autosomal vendor has unique benefits and focus as well as shortcomings. I’ve listed the major points for each vendor relative to searching for Y and mitochondrial
DNA testing candidates. It’s important to understand the advantages of each vendor because it will help you understand the testers you are most likely to find in each database and may help focus your search.

FamilyTreeDNA’s Family Finder

  • Because FamilyTreeDNA archives customer’s DNA for 25 years, many people who tested Y or mitochondrial DNA 20 years ago and are now deceased upgraded to autosomal tests when they became available, or have been upgraded by family members since. These early testers often reach back another generation or so into the past to people born a century ago.
  • Advanced autosomal matching integrates with Y and mitochondrial DNA along with surname and other projects
  • Phased Family Matching provides the ability to link family members that match you to your tree which allows Family Tree DNA to group matches as paternal or maternal by utilizing matching segments to the same side of your family
  • Genetic Affairs, a third-party tool available for testers, builds common trees by reading the trees of your matches and comparing their trees with your own to identify common ancestors.
  • Genetic Affairs builds trees and pedigrees of your matches by searching for common ancestors in your MATCHES trees, even if you have no tree or don’t share those ancestors in your tree. This functionality includes Y and mitochondrial DNA if you have tested. This facilitates discovery of common ancestors of the people who you match, which may well lead you to ancestral discoveries as well.
  • Genetic Affairs offers clustering of your shared matches.
  • DNA file transfers are accepted from other vendors, free, with a $19 one time fee to unlock advanced tools.
  • Family Tree DNA has tested people worldwide, with a few location exceptions, since inception in the year 2000.
  • No direct triangulation, but Phased Family Matching provides maternal and paternal side triangulation when matches can be grouped into maternal and paternal sides.
  • Matches and segment match information are available for download.
  • The great thing about the advanced matching tool at Family Tree DNA is that it facilitates searching for people who match you on different kinds of tests, so it helps determine the potential closeness or distance of Y and mitochondrial relationships.

MyHeritage

Ancestry

  • Ancestry has the largest database, but did not begin testing until 2012 and did not test widely outside of the US/UK for some time. They now sell tests in 34 countries. Their testers are primarily focused in the US, Canada, England, Scotland, Ireland, and diaspora, with some overlap into Europe.
  • Ancestry offers ThruLines, a tool that connects testers whose DNA matches with common ancestors in their trees.
  • Ancestry does not provide a chromosome browser, a tool provided by the other three primary testing companies, nor do they provide triangulation or matching segment location information necessary to confirm that you match on the same segment with other people.
  • Ancestry has issued cease and desist orders to third party tools that perform functions such as clustering, autotrees, autopedigrees or downloading of matches. Ancestry does not provide these types of features for their users.
  • Ancestry does not accept transfers, so if you want to be in Ancestry’s database, you must test with Ancestry.
  • No Y or mitochondrial DNA testing available.
  • Match list is not available for download.

23andMe

  • The primary focus of 23andMe has always been health testing, so many people who test at 23andMe are not interested in genealogy.
  • 23andMe tests are sold in about 50 countries, but not worldwide.
  • 23andMe provides a chromosome browser, triangulation, segment information and a beta genetically constructed tree for close matches.
  • 23andMe does NOT support a genealogical tree either uploaded or created on their site, making tree comparisons impossible.
  • Genetic Affairs AutoCluster works at 23andMe, but AutoTree and AutoPedigree do not because 23andMe does not support trees.
  • 23andMe does make match files available for downloading.
  • No Y or mitochondrial DNA full testing or matching, but basic haplogroups are provided.
  • 23andMe caps matches at 2000, less any matches that have opted out of matching. My matches currently number 1770.
  • 23andMe does not accept transfers from other vendors, so if you want to be in their database, you must test with 23andMe.

Reaching Out to Find Testers

Unfortunately, we only carry the mitochondrial DNA of our mother and only men carry the Y DNA of their father. That means if we want to obtain that DNA information about our other family lines, we have to find people who descend appropriately from the ancestor in question and test that person.

I’ll share with you how I search for people who descend from each ancestor. After finding that person, I explain the situation, why the different kinds of tests are important, and offer a testing scholarship for the Y or mtDNA test at Family Tree DNA if they have not already taken that test. If they’ve tested their autosomal DNA elsewhere. I also explain that they can transfer their autosomal DNA file for free too and will receive new matches.

Here’s an article with links to upload/download instructions for each testing company. Feel free to share.

Each DNA testing company has different features, but you can use all of the companies to find people descended in the appropriate way from each ancestor. It’s easier if you know how to utilize each vendor’s tools to optimize your chances of success. I’m going to step you through the search process with hints and tips for each vendor.

Finding Y DNA and Mitochondrial DNA Candidates at FamilyTreeDNA

Because FamilyTreeDNA tests for both Y and mitochondrial DNA and has for 20 years, you stand a better chance of finding a candidate there who may have already tested, so that’s where I always begin.

Y DNA

Let’s say, for example, that I need to find a male descendant of my Ferverda line in order to ask them to test for Y DNA. The person can be descended from either a close relative, if I know of one, or a more distant relative that I don’t know, but need to find through searching other ways.

Search for Surnames and Projects at Family Tree DNA

First, search the FamilyTreeDNA website for your goal surname among existing testers, and then the appropriate surname project to see if your line has already tested.

ymt ferverda

On the main page, here, scroll down to until you see the prompt, above, and enter the surname. Be sure to consider alternate spellings too.

ymt ferverda search.png

In this case, I see that there is a Ferverda surname project with 18 people, and scrolling on down, that 4 people with this specific surname have tested.

ymt results.png

However, searching for an alternate spelling, the way it’s spelled in the Netherlands, I find that another 10 people have tested.

ymt ferwerda

Of course, some may be females, but they probably know males by that surname.

First, I’m going to check the Ferverda DNA project to see if a Ferverda male from my line has tested, and if so, to what level.

Click on the project link in the search results to see the DNA Project.

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Note two things. First, the administrator’s name, as you may need this later. If you click on their name, their email address is displayed.

Second, click on DNA Results and select Y DNA if you’re presented with a choice. If the project has a public facing page, and most do, you’ll see something like the following information.

ymt project

Hey look, it’s my lucky day, given that both of these men descend from my ancestor. I happen to know that they have both taken the Big Y test, because I’m the project administrator, but you won’t know that. One way to get an idea is if they have less than the full 111 markers showing, they probably haven’t taken the Big Y, because a 111 upgrade is included in the Big Y test today.

You have three options at this point to contact one of these men:

  • See if the people are on your own autosomal DNA match list, or the match lists of kits from that family that you manage. If so, you can view their email address and contact them. If you haven’t yet tested autosomally, meaning the Family Finder test, at Family Tree DNA, you can transfer autosomal tests from elsewhere, for free, which means you will be viewing matches within hours or a couple days. Otherwise, you can order a Family Finder test, of course.
  • If the person with the Ferverda or Ferwerda surname is not on your Family Finder match list, reach out to the project administrator with a note to the person you want to contact and ask the administrator to forward your email to the project member.
  • If the administrator doesn’t answer, contact Family Tree DNA support and make the same request.

Checking Family Finder, one of those people is on my match list and I’m pretty sure it’s the right person, because when I click on his profile, not only does the haplogroup match the DNA project, but so does the ancestor.

ymt ferverda profile.png

Searching Family Finder

If there isn’t a DNA project match you can identify as your direct line ancestor, you can search your Family Finder matches for the surname to find a male with that surname. If your match has a tree, see if your ancestor or ancestral line is showing, then note whether they have taken a Y DNA test. They may have taken a Y test, but have not joined a project or not entered any “earliest known ancestor.” You can see which tests they’ve taken by looking at the little tabs above their profile on their tree, or on their profile card.

ymt ferverda tree

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Regardless, you’re now in touch with a potential contact.

Don’t dismiss females with that surname, or people who show that surname in their ancestral surname list. Women with the surname you’re looking for may have husbands, fathers, brothers or uncles who descend from the line you are seeking.

ymt search field.png

Utilize Genetic Affairs

My ace in the hole at FamilyTreeDNA is the Genetic Affairs AutoTree and AutoPedigree function.

Genetic Affairs is a third-party tool that you can use to assist with analysis of your matches at FamilyTreeDNA.

ymt genetic affairs

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At Genetic Affairs, selecting AutoTree generates trees where common ancestors of you and your matches, or your matches to each other, are displayed.

Your goal is to identify people descended from a common ancestor either directly paternally through all males for Y DNA or through all females to the current generation, which can be males, for mitochondrial DNA.

This article provides step-by-step instructions for the Genetic Affairs AutoTree and AutoPedigree functions.

Mitochondrial DNA

Mitochondrial DNA lineages are a bit more challenging because the surname changes every generation and DNA projects are unlikely to help.

The AutoTree/AutoPedigree report through Genetic Affairs serves the same purpose for mitochondrial DNA – building trees that intersect with a common ancestor. I generally drop the “minimum size of the largest DNA segment shared with the match” to 7 cM for this report. My goal running this report for this purpose isn’t to analyze autosomal DNA, but to find testing candidates based on how my matches descend from a specific ancestor, so I want to include as many matches as possible.

Family Finder Can Refine Y and mtDNA Information

In some cases, a Family Finder test can refine a potential relationship between two people who match on either Y DNA or mitochondrial. Additionally, you may want to encourage, or gift, specific matches with an upgrade to see if they continue to match you at higher testing levels.

Let’s say that two men match closely on a Y DNA test, but you’d like to know how far back the common ancestor lived.

ymt y matches.png

In this instance, you can see that the second match has taken a BIg Y and a Family Finder test, but the exact match (genetic distance of 0) has not. If the first individual cannot provide much genealogy, having them take a Family Finder test would help at least rule out a relationship through second cousins and would give you at least some idea how far back in time your common ancestor may have lived. If you do match on Family Finder, you receive an estimate of your relationship and can check the match level possibilities using the DNAPainter Shared cM Tool. If they upgrade to the Big Y-700 test, you may be able to differentiate your line from theirs, or confirm when and where a split occurred – or that there is no split.

This same autosomal testing scenario works for mitochondrial DNA.

For people who have taken both tests, Family Finder plus either Y or mitochondrial DNA, the Advanced Matching menu allows you to select combinations of tests and projects to query.

ymt advanced

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Finding Y and Mitochondrial DNA Candidates at MyHeritage

MyHeritage provides a wonderful tool called Theories of Family Relativity (TOFR) which finds common ancestors between you and your DNA matches, even if the ancestor is not in both trees, so long as a path exists between the two testers’ trees using other trees or research documents, such as census records. Of course, you’ll need to verify accuracy.

ymt tofr.png

At MyHeritage, select DNA Matches, then “Has Theory of Family Relativity.”

ymt mh ferverda

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You can see that I have 65 matches with a Theory of Family Relativity. Additionally, I can then search by surname.

ymt mh ferverda tree.png

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If I am looking for a Ferverda Y DNA candidate, I’ve found one thanks to this TOFR.

If you don’t find a tree where your match descends from your ancestor in the desired way, you can also widen the search by de-selecting Theories of Family Relativity and instead selecting SmartMatchs or shared surname combined with the name of your ancestor. There are many search and filter combinations available.

Let’s look at a mitochondrial DNA example where I’m searching for a descendant of Elizabeth Speaks who married Samuel Clarkson/Claxton.

ymt smartmatches

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In this case, I have one SmartMatch, which means that someone by the name of Elizabeth Speaks is found in my matches tree. I need to look to see if it’s the RIGHT Elizabeth Speaks and if my match descends through all females to the current generation. If so, I’ve found my mitochondrial DNA candidate and I can leave them a message.

You can also view SmartMatches (without a DNA match) from your own tree.

I can go to that person in my tree, click on their profile, and see how many SmartMatches I have. Clicking on 13 SmartMatches allows me to view those matches and I can click through to the connected trees.

ymt mt speaks.png

I can also click on “research this person” to discover more.

If you’re still not successful, don’t give up quite yet, because you can search in the records for trees that shows the person whom you seek. A SmartMatch is only created if the system thinks it’s the same person in both trees. Computers are far from perfect.

ymt mh trees

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Narrow the search as much as possible to make it easier to find the right individual, and then view the trees for descent in the proper manner.

Another wonderful tool at MyHeritage is the Genetic Affairs AutoCluster tool, built-in for MyHeritage users.

ymt mh cluster.png

The above cluster shows that one person carries the surname of Elizabeth’s husband. Viewing the accompanying spreadsheet for the AutoCluster run reveals that indeed, I’ve already identified a couple of matches as descendants of the desired ancestral couple. The spreadsheet shows links to their trees, my notes and more.

ymt cluster ss

Clusters show you where to look. Without the cluster, I had only identified two people as descendants of this ancestral couple. I found several more candidates to evaluate and two mitochondrial candidates are found in this cluster.

Finding Y and Mitochondrial DNA Candidates at 23andMe

23andMe is a little more tricky because they don’t support either uploaded or created user trees which makes finding descendants of a particular ancestor quite challenging.

However, 23andMe attempts to create a tree of your closer relatives genetically. which you can find under “DNA Relatives,” under the Ancestry tab, then “Family Tree” at the top.

I’ve added the names of my ancestors when I can figure out who the match is. Please note that this “created tree” is seldom exactly accurate, but there are often enough hints that you’ll be able to piece together at least some of the rest.

Here’s part of my “created” tree at 23andMe. I’m at far right.

ymt23 tree.png

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If you’re a genealogist, your eyes are going to glaze over about now, because the “people” aren’t in the correct locations – with maternal and paternal sides of the tree swapped. Also, please note, the locations in which they place people are estimates AND 23andMe does NOT take into account or provide for half-relationships.

That said, you can still obtain candidates for Y and mitochondrial DNA testing.

In this case, I’m searching for a mitochondrial DNA candidate for Evaline Miller, my grandfather’s mother or a Y DNA candidate for the Ferverda line.

I can tell by the surname of the male match, Ferverda, that he probably descends through a son, making him a Y DNA candidate.

Both Cheryl and Laura are possible mitochondrial DNA candidates for Evaline Miller, based on this tree, depending of course on how they actually do descend.

I can contact all of my matches, but in the event that they don’t answer, I’m not entirely out of luck. If I can determine EXACTLY how the match descends, and they descend appropriately for mitochondrial DNA, I can view the match to see at least a partial haplogroup. Since 23andMe only uses relatively close matches when constructing your tree, I’m relatively likely to recognize the names of the testers and may have them in my genealogy program.

By clicking on the Ferverda male, I can see that his Y haplogroup is I-Z58. That’s not nearly as refined as the Y DNA information at Family Tree DNA, but it’s something if I have nothing else and he doesn’t answer my query that would include the offer of a Y DNA test at Family Tree DNA.

ymt 23 hap

You can search at 23andMe by surname, but unless your match has entered their ancestral surnames and you recognize surnames that fit together, without a tree, unless your match answers your query, it’s very difficult to determine how you connect.

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You can also view “Relatives in Common,” hoping to recognize someone you know as a common match.

ymt relatives in common

Please note that 23andMe does allow testers to enter a link to a tree, but few do.

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It’s worth checking, and be sure to enter your own tree link location.

Finding Y and Mitochondrial DNA Candidates at Ancestry

Ancestry’s ThruLines provides an excellent tool to find both Y and mitochondrial DNA participants.

Ancestry organizes their ThruLines by ancestor.

ymt thrulines

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Select your desired Ancestor, someone whose DNA you seek. Clearly, Y DNA candidates are very easy because you simply choose any male ancestor in the correct line with the surname and look for a male match with the appropriate surname.

In this case, I’m selecting Martha Ruth Dodson, because I need her mitochondrial DNA.

ymt dodson.png

By clicking on her “card” I then see my matches assigned to her ThruLine.

Ymt ancestry thruline

Obviously, for mitochondrial DNA, I’m looking for someone descended through all females, so Martha’s daughter, Elizabeth Estes’s son Robert won’t work, but her daughter, Louisa Vannoy, at left is the perfect candidate. Thankfully, my cousin whom I match, at bottom left is descended through all females to the current generation, which can be male or female, so is a mitochondrial DNA candidate.

Finding Y and Mitochondrial DNA Candidates in Trees in General

I’ve utilized the combination of trees and DNA matches at FamilyTreeDNA through Genetic Affairs, Ancestry and MyHeritage, but you can also simply search for people who descend from the same ancestor based on their tree alone at the vendors who support trees as part of genealogical records. This includes both Ancestry and MyHeritage but also sites like Geneanet which is becoming increasingly popular, especially in Europe. (I have not worked extensively with Geneanet yet but plan to take it for a test drive soon.)

My reason for utilizing DNA matches+trees first is that the person has already been introduced to the concept that DNA can help with genealogy, and has obviously embraced DNA testing at least once. Not only that, with the assist of a Theory of Family Relativity, ThruLine or genetic Affairs automation tools, it’s much easier to find appropriate candidates.

Finding Y and Mitochondrial DNA Candidates at WikiTree

If you reach beyond DNA testing companies, WikiTree provides a valuable feature which allows people to specify that they descend from a particular ancestor, and if they have DNA tested, how they descend – including Y DNA, mitochondrial DNA and autosomal.

Here’s an example on the profile of John Y. Estes at WikiTree, one of my Estes ancestors.

ymt wiki.png

If someone descends appropriately for either Y or mitochondrial DNA line, and has taken that test, their information is listed.

In this case, there are two Y DNA testers and two autosomal, but no mitochondrial DNA which would have descended from John’s mother, of course.

You can click on the little green arrow icon to see how any DNA tested person descends from the ancestor whose profile you are accessing.

ymt wiki compare

Of course, the same surname for males is a good indication that the man in question is descended from that paternal line, but check to be sure, because some males took their mother’s surname for various reasons.

Here’s my line-of-descent from John Y. Estes. I can click on anyone else whose DNA information is listed as well to see how they descend from John. If they descend from John through all females, then they obviously descend from his wife though all females too which means they are a mitochondrial DNA candidate for her.

ymt wiki relationship.png

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Clicking on autosomal testers may reveal someone appropriately descended from the ancestor in question.

You can then click on any ancestor shown to view their profile, and any DNA tested descendants.

By clicking on name of the descendant whose DNA test you are interested in, you’ll be able to view their profile. Look for the Collaboration section where you can send them a private message that will be delivered by email from WikiTree.

ymt collaborate

Finding Y and Mitochondrial DNA Candidates at GedMatch

One final avenue to find Y and mitochondrial DNA candidates is through GedMatch, It’s probably the least useful option, though, because the major vendors all have some sort of tree function, except for 23andMe, and for some reason, many people have not uploaded GEDCOM files (trees) to GEDmatch.

Therefore, if you can find someone on GedMatch that tested elsewhere perhaps, such as LivingDNA who also provides a base haplogroup, or 23andMe, and they uploaded a GEDCOM file (tree) to GedMatch, you can utilize the GEDmatch “Find common ancestors” automated tree-matching functionality.

gedmatch mrca matches

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GEDmatch produces a list of your matches with common ancestors in their trees, allowing you to select the appropriate ancestor or lineage.

I wrote step-by-step instructions in the article, GEDmatch Introduces Automated Tree Matching.

Additionally, GEDmatch includes the Genetic Affairs AutoCluster tool in their Tier1 subscription offering,

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Gedmatch users who know their Y and mitochondrial haplogroup can enter that information in their profile and it will be reflected on the autosomal match list.

ymt gedmatch hap

Summary Chart

In summary, each testing vendor has a different focus and unique tools that can be used to search for Y and mitochondrial DNA candidates. Additionally, two other resources, WikiTree and GEDmatch, although not DNA testing vendors, can lead to discovering Y and mtDNA candidates as well.

I’ve created a quick-reference chart.

  Family Tree DNA MyHeritage Ancestry 23andMe Wikitree GEDmatch
Y DNA Test Yes No No No, partial haplogroup provided No test, listed by ancestor No, user entered
mtDNA Test Yes No No No, partial haplogroup provided No test, listed by ancestor No, user entered
DNA Projects Yes No No No Some Some
Strengths other than mentioned categories 20 year worldwide customer base, phased family matching European focus, SmartMatches, wide variety of filters Largest autosomal database Genetic tree beta DNA by ancestor May include users not found elsewhere who tested outside the major companies
Drawbacks No direct triangulation or tree matching No Genetic Affairs AutoTree or AutoPedigree Can’t download matches, no triangulation, clusters, AutoTree, or AutoPedigree No trees, 2000 match limit “One tree” may be incorrect Few trees, no AutoTree or AutoPedigree
Clustering Genetic Affairs Included in advanced tools No, prohibited Genetic Affairs N/A Included in Tier1
Genetic Affairs AutoTree & AutoPedigree Yes No No No, no tree support N/A No
Tree matching between users No, through Genetic Affairs Theories of Family Relativity ThruLines No Not directly MRCA common ancestors in Tier1

Now it’s your turn. Which Y and mitochondrial DNA lines can you find today?

Happy Hunting!

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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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Concepts: Inheritance

Inheritance.

What is it?

How does it work?

I’m not talking about possessions – but about the DNA that you receive from your parents, and their parents.

The reason that genetic genealogy works is because of inheritance. You inherit DNA from your parents in a known and predictable fashion.

Fortunately, we have more than one kind of DNA to use for genealogy.

Types of DNA

Females have 3 types of DNA and males have 4. These different types of DNA are inherited in various ways and serve different genealogical purposes.

Males Females
Y DNA Yes No
Mitochondrial DNA Yes Yes
Autosomal DNA Yes Yes
X Chromosome Yes, their mother’s only Yes, from both parents

Different Inheritance Paths

Different types of DNA are inherited from different ancestors, down different ancestral paths.

Inheritance Paths

The inheritance path for Y DNA is father to son and is inherited by the brother, in this example, from his direct male ancestors shown by the blue arrow. The sister does not have a Y chromosome.

The inheritance path for the red mitochondrial DNA for both the brother and sister is from the direct matrilineal ancestors, only, shown by the red arrow.

Autosomal DNA is inherited from all ancestral lines on both the father’s and mother’s side of your tree, as illustrated by the broken green arrow.

The X chromosome has a slightly different inheritance path, depending on whether you are a male or female.

Let’s take a look at each type of inheritance, how it works, along with when and where it’s useful for genealogy.

Autosomal DNA

Autosomal DNA testing is the most common. It’s the DNA that you inherit from both of your parents through all ancestral lines back in time several generations. Autosomal DNA results in matches at the major testing companies such as FamilyTreeDNA, MyHeritage, Ancestry, and 23andMe where testers view trees or other hints, hoping to determine a common ancestor.

How does autosomal DNA work?

22 autosomes

Every person has two each of 22 chromosomes, shown above, meaning one copy is contributed by your mother and one copy by your father. Paired together, they form the two-sided shape we are familiar with.

For each pair of chromosomes, you receive one from your father, shown with a blue arrow under chromosome 1, and one from your mother, shown in red. In you, these are randomly combined, so you can’t readily tell which piece comes from which parent. Therein lies the challenge for genealogy.

This inheritance pattern is the same for all chromosomes, except for the 23rd pair of chromosomes, at bottom right, which determined the sex of the child.

The 23rd chromosome pair is inherited differently for males and females. One copy is the Y chromosome, shown in blue, and one copy is the X, shown in red. If you receive a Y chromosome from your father, you’re a male. If you receive an X from your father, you’re a female.

Autosomal Inheritance

First, let’s talk about how chromosomes 1-22 are inherited, omitting chromosome 23, beginning with grandparents.

Inheritance son daughter

Every person inherits precisely half of each of their parents’ autosomal DNA. For example, you will receive one copy of your mother’s chromosome 1. Your mother’s chromosome 1 is a combination of her mother’s and father’s chromosome 1. Therefore, you’ll receive ABOUT 25% of each of your grandparents’ chromosome 1.

Inheritance son daughter difference

In reality, you will probably receive a different amount of your grandparent’s DNA, not exactly 25%, because your mother or father will probably contribute slightly more (or less) of the DNA of one of their parents than the other to their offspring.

Which pieces of DNA you inherit from your parents is random, and we don’t know how the human body selects which portions are and are not inherited, other than we know that large pieces are inherited together.

Therefore, the son and daughter won’t inherit the exact same segments of the grandparents’ DNA. They will likely share some of the same segments, but not all the same segments.

Inheritance maternal autosomalYou’ll notice that each parent carries more of each color DNA than they pass on to their own children, so different children receive different pieces of their parents’ DNA, and varying percentages of their grandparents’ DNA.

I wrote about a 4 Generation Inheritance Study, here.

Perspective

Keep in mind that you will only inherit half of the DNA that each of your parents carries.

Looking at a chromosome browser, you match your parents on all of YOUR chromosomes.

Inheritance parental autosomal

For example, this is me compared to my father. I match my father on either his mother’s side, or his father’s side, on every single location on MY chromosomes. But I don’t match ALL of my father’s DNA, because I only received half of what he has.

From your parents’ perspective, you only have half of their DNA.

Let’s look at an illustration.

Inheritance mom dad

Here is an example of one of your father’s pairs of chromosomes 1-22. It doesn’t matter which chromosome, the concepts are the same.

He inherited the blue chromosome from his father and the pink chromosome from his mother.

Your father contributed half of his DNA to you, but that half is comprised of part of his father’s chromosome, and part of his mother’s chromosome, randomly selected in chunks referred to as segments.

Inheritance mom dad segments

Your father’s chromosomes are shown in the upper portion of the graphic, and your chromosome that you inherited from you father is shown below.

On your copy of your father’s chromosome, I’ve darkened the dark blue and dark pink segments that you inherited from him. You did not receive the light blue and light pink segments. Those segments of DNA are lost to your line, but one of your siblings might have inherited some of those pieces.

Inheritance mom dad both segments

Now, I’ve added the DNA that you inherited from your Mom into the mixture. You can see that you inherited the dark green from your Mom’s father and the dark peach from your Mom’s mother.

Inheritance grandparents dna

These colored segments reflect the DNA that you inherited from your 4 grandparents on this chromosome.

I often see questions from people wondering how they match someone from their mother’s side and someone else from their father’s side – on the same segment.

Understanding that you have a copy of the same chromosome from your mother and one from your father clearly shows how this happens.

Inheritance match 1 2

You carry a chromosome from each parent, so you will match different people on the same segment. One match is to the chromosome copy from Mom, and one match is to Dad’s DNA.

Inheritance 4 gen

Here is the full 4 generation inheritance showing Match 1 matching a segment from your Dad’s father and Match 2 matching a segment from your Mom’s father.

Your Parents Will Have More Matches Than You Do

From your parents’ perspective, you will only match (roughly) half of the DNA with other people that they will match. On your Dad’s side, on segment 1, you won’t match anyone pink because you didn’t inherit your paternal grandmother’s copy of segment 1, nor did you inherit your maternal grandmother’s segment 1 either. However, your parents will each have matches on those segments of DNA that you didn’t inherit from them.

From your perspective, one or the other of your parents will match ALL of the people you match – just like we see in Match 1 and Match 2.

Matching you plus either of your parents, on the same segment, is exactly how we determine whether a match is valid, meaning identical by descent, or invalid, meaning identical by chance. I wrote about that in the article, Concepts: Identical by…Descent, State, Population and Chance.

Inheritance on chromosomes 1-22 works in this fashion. So does the X chromosome, fundamentally, but the X chromosome has a unique inheritance pattern.

X Chromosome

The X chromosome is inherited differently for males as compared to females. This is because the 23rd pair of chromosomes determines a child’s sex.

If the child is a female, the child inherits an X from both parents. Inheritance works the same way as chromosomes 1-22, conceptually, but the inheritance path on her father’s side is different.

If the child is a male, the father contributes a Y chromosome, but no X, so the only X chromosome a male has is his mother’s X chromosome.

Males inherit X chromosomes differently than females, so a valid X match can only descend from certain ancestors on your tree.

inheritance x fan

This is my fan chart showing the X chromosome inheritance path, generated by using Charting Companion. My father’s paternal side of his chart is entirely blank – because he only received his X chromosome from his mother.

You’ll notice that the X chromosome can only descend from any male though his mother – the effect being a sort of checkerboard inheritance pattern. Only the pink and blue people potentially contributed all or portions of X chromosomes to me.

This can actually be very useful for genealogy, because several potential ancestors are immediately eliminated. I cannot have any X chromosome segment from the white boxes with no color.

The X Chromsome in Action

Here’s an X example of how inheritance works.

Inheritance X

The son inherits his entire X chromosome from his mother. She may give him all of her father’s or mother’s X, or parts of both. It’s not uncommon to find an entire X chromosome inherited. The son inherits no X from his father, because he inherits the Y chromosome instead.

Inheritance X daughter

The daughter inherits her father’s X chromosome, which is the identical X chromosome that her father inherited from his mother. The father doesn’t have any other X to contribute to his daughter, so like her father, she inherits no portion of an X chromosome from her paternal grandfather.

The daughter also received segments of her mother’s X that her mother inherited maternally and paternally. As with the son, the daughter can receive an entire X chromosome from either her maternal grandmother or maternal grandfather.

This next illustration ONLY pertains to chromosome 23, the X and Y chromosomes.

Inheritance x y

You can see in this combined graphic that the Y is only inherited by sons from one direct line, and the father’s X is only inherited by his daughter.

X chromosome results are included with autosomal results at both Family Tree DNA and 23andMe, but are not provided at MyHeritage. Ancestry, unfortunately, does not provide segment information of any kind, for the X or chromosomes 1-22. You can, however, transfer the DNA files to Family Tree DNA where you can view your X matches.

Note that X matches need to be larger than regular autosomal matches to be equally as useful due to lower SNP density. I use 10-15 cM as a minimum threshold for consideration, equivalent to about 7 cM for autosomal matches. In other words, roughly double the rule of thumb for segment size matching validity.

Autosomal Education

My blog is full of autosomal educational articles and is fully keyword searchable, but here are two introductory articles that include information from the four major vendors:

When to Purchase Autosomal DNA Tests

Literally, anytime you want to work on genealogy to connect with cousins, prove ancestors or break through brick walls.

  • Purchase tests for yourself and your siblings if both parents aren’t living
  • Purchase tests for both parents
  • Purchase tests for all grandparents
  • Purchase tests for siblings of your parents or your grandparents – they have DNA your parents (and you) didn’t inherit
  • Test all older generation family members
  • If the family member is deceased, test their offspring
  • Purchase tests for estimates of your ethnicity or ancestral origins

Y DNA

Y DNA is only inherited by males from males. The Y chromosome is what makes a male, male. Men inherit the Y chromosome intact from their father, with no contribution from the mother or any female, which is why men’s Y DNA matches that of their father and is not diluted in each generation.

Inheritance y mtdna

If there are no adoptions in the line, known or otherwise, the Y DNA will match men from the same Y DNA line with only small differences for many generations. Eventually, small changes known as mutations accrue. After many accumulated mutations taking several hundred years, men no longer match on special markers called Short Tandem Repeats (STR). STR markers generally match within the past 500-800 years, but further back in time, they accrue too many mutations to be considered a genealogical-era match.

Family Tree DNA sells this test in 67 and 111 marker panels, along with a product called the Big Y-700.

The Big Y-700 is the best-of-class of Y DNA tests and includes at least 700 STR markers along with SNPs which are also useful genealogically plus reach further back in time to create a more complete picture.

The Big Y-700 test scans the entire useful portion of the Y chromosome, about 15 million base pairs, as compared to 67 or 111 STR locations.

67 and 111 Marker Panel Customers Receive:

  • STR marker matches
  • Haplogroup estimate
  • Ancestral Origins
  • Matches Map showing locations of the earliest known ancestors of matches
  • Haplogroup Origins
  • Migration Maps
  • STR marker results
  • Haplotree and SNPs
  • SNP map

Y, mitochondrial and autosomal DNA customers all receive options for Advanced Matching.

Big Y-700 customers receive, in addition to the above:

  • All of the SNP markers in the known phylotree shown publicly, here
  • A refined, definitive haplogroup
  • Their place on the Block Tree, along with their matches
  • New or unknown private SNPs that might lead to a new haplogroup, or genetic clan, assignment
  • 700+ STR markers
  • Matching on both the STR markers and SNP markers, separately

Y DNA Education

I wrote several articles about understanding and using Y DNA:

When to Purchase Y DNA Tests

The Y DNA test is for males who wish to learn more about their paternal line and match against other men to determine or verify their genealogical lineage.

Women cannot test directly, but they can purchase the Y DNA test for men such as fathers, brothers, and uncles.

If you are purchasing for someone else, I recommend purchasing the Big Y-700 initially.

Why purchase the Big Y-700, when you can purchase a lower level test for less money? Because if you ever want to upgrade, and you likely will, you have to contact the tester and obtain their permission to upgrade their test. They may be ill, disinterested, or deceased, and you may not be able to upgrade their test at that time, so strike while the iron is hot.

The Big Y-700 provides testers, by far, the most Y DNA data to work (and fish) with.

Mitochondrial DNA

Inheritance mito

Mitochondrial DNA is passed from mothers to both sexes of their children, but only females pass it on.

In your tree, you and your siblings all inherit your mother’s mitochondrial DNA. She inherited it from her mother, and your grandmother from her mother, and so forth.

Mitochondrial DNA testers at FamilyTreeDNA receive:

  • A definitive haplogroup, thought of as a genetic clan
  • Matching
  • Matches Map showing locations of the earliest know ancestors of matches
  • Personalized mtDNA Journey video
  • Mutations
  • Haplogroup origins
  • Ancestral origins
  • Migration maps
  • Advanced matching

Of course, Y, mitochondrial and autosomal DNA testers can join various projects.

Mitochondrial DNA Education

I created a Mitochondrial DNA page with a comprehensive list of educational articles and resources.

When to Purchase Mitochondrial DNA Tests

Mitochondrial DNA can be valuable in terms of matching as well as breaking down brick walls for women ancestors with no surnames. You can also use targeted testing to prove, or disprove, relationship theories.

Furthermore, your mitochondrial DNA haplogroup, like Y DNA haplogroups, provides information about where your ancestors came from by identifying the part of the world where they have the most matches.

You’ll want to purchase the mtFull sequence test provided by Family Tree DNA. Earlier tests, such as the mtPlus, can be upgraded. The full sequence test tests all 16,569 locations on the mitochondria and provides testers with the highest level matching as well as their most refined haplogroup.

The full sequence test is only sold by Family Tree DNA and provides matching along with various tools. You’ll also be contributing to science by building the mitochondrial haplotree of womankind through the Million Mito Project.

Combined Resources for Genealogists

You may need to reach out to family members to obtain Y and mitochondrial DNA for your various genealogical lines.

For example, the daughter in the tree below, a genealogist, can personally take an autosomal test along with a mitochondrial test for her matrilineal line, but she cannot test for Y DNA, nor can she obtain her paternal grandmother’s mitochondrial DNA directly by testing herself.

Hearts represent mitochondrial DNA, and stars, Y DNA.

Inheritance combined

However, our genealogist’s brother, father or grandfather can test for her father’s (blue star) Y DNA.

Her father or any of his siblings can test for her paternal grandmother’s (hot pink heart) mitochondrial DNA, which provides information not available from any other tester in this tree, except for the paternal grandmother herself.

Our genealogist’s paternal grandfather, and his siblings, can test for his mother’s (yellow heart) mitochondrial DNA.

Our genealogist’s maternal grandfather can test for his (green star) Y DNA and (red heart) mitochondrial DNA.

And of course, it goes without saying that every single generation upstream of the daughter, our genealogist, should all take autosomal DNA tests.

So, with several candidates, who can and should test for what?

Person Y DNA Mitochondrial Autosomal
Daughter No Y – can’t test Yes, her pink mother’s Yes – Test
Son Yes – blue Y Yes, his pink mother’s Yes – Test
Father Yes – blue Y Yes – his magenta mother’s Yes – Test
Paternal Grandfather Yes – blue Y – Best to Test Yes, his yellow mother’s – Test Yes – Test
Mother No Y – can’t test Yes, her pink mother’s Yes – Test
Maternal Grandmother No Y – can’t test Yes, her pink mother’s – Best to Test Yes – Test
Maternal Grandfather Yes – green Y – Test Yes, his red mother’s – Test Yes – Test

The best person/people to test for each of the various lines and types of DNA is shown bolded above…assuming that all people are living. Of course, if they aren’t, then test anyone else in the tree who carries that particular DNA – and don’t forget to consider aunts and uncles, or their children, as candidates.

If one person takes the Y and/or mitochondrial DNA test to represent a specific line, you don’t need another person to take the same test for that line. The only possible exception would be to confirm a specific Y DNA result matches a lineage as expected.

Looking at our three-generation example, you’ll be able to obtain a total of two Y DNA lines, three mitochondrial DNA lines, and 8 autosomal results, helping you to understand and piece together your family line.

You might ask, given that the parents and grandparents have all autosomally tested in this example, if our genealogist really needs to test her brother, and the answer is probably not – at least not today.

However, in cases like this, I do test the sibling, simply because I can learn and it may encourage their interest or preserve their DNA for their children who might someday be interested. We also don’t know what kind of advances the future holds.

If the parents aren’t both available, then you’ll want to test as many of your (and their) siblings as possible to attempt to recover as much of the parents’ DNA, (and matches) as possible.

Your family members’ DNA is just as valuable to your research as your own.

Increase Your Odds

Don’t let any of your inherited DNA go unused.

You can increase your odds of having autosomal matches by making sure you are in all 4 major vendor databases.

Both FamilyTreeDNA and MyHeritage accept transfers from 23andMe and Ancestry, who don’t accept transfers. Transferring and matching is free, and their unlock fees, $19 at FamilyTreeDNA, and $29 at MyHeritage, respectively, to unlock their advanced tools are both less expensive than retesting.

You’ll find easy-to-follow step-by-step transfer instructions to and from the vendors in the article DNA File Upload-Download and Transfer Instructions to and from DNA Testing Companies.

Order

You can order any of the tests mentioned above by clicking on these links:

Autosomal:

Transfers

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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

Concepts: Chromosome Browser – What Is It, How Do I Use It, and Why Do I Care?

The goal of genetic genealogy is to utilize DNA matches to verify known ancestors and identify unknown ancestors.

A chromosome browser is a tool that allows testers to visualize and compare their DNA on each chromosome with that of their genetic matches. How to utilize and interpret that information becomes a little more tricky.

I’ve had requests for one article with all the information in one place about chromosome browsers:

  • What they are
  • How and when to use them
  • Why you’d want to

I’ve included a feature comparison chart and educational resource list at the end.

I would suggest just reading through this article the first time, then following along with your own DNA results after you understand the basic landscape. Using your own results is the best way to learn anything.

What Does a Chromosome Browser Look Like?

Here’s an example of a match to my DNA at FamilyTreeDNA viewed on their chromosome browser.

browser example.png

On my first 16 chromosomes, shown above, my 1C1R (first cousin once removed,) Cheryl, matches me where the chromosomes are painted blue. My chromosome is represented by the grey background, and her matching portion by the blue overlay.

Cheryl matches me on some portion of all chromosomes except 2, 6, and 13, where we don’t match at all.

You can select any one person, like Cheryl, from your match list to view on a chromosome browser to see where they match you on your chromosomes, or you can choose multiple matches, as shown below.

browser multiple example.png

I selected my 7 closest matches that are not my immediate family, meaning not my parents or children. I’m the background grey chromosome, and each person’s match is painted on top of “my chromosome” in the location where they match me. You see 7 images of my grey chromosome 1, for example, because each of the 7 people being compared to me are shown stacked below one another.

Everyplace that Cheryl matches me is shown on the top image of each chromosome, and our matching segment is shown in blue. The same for the second red copy of the chromosome, representing Don’s match to me. Each person I’ve selected to match against is shown by their own respective color.

You’ll note that in some cases, two people match me in the same location. Those are the essential hints we are looking for. We’ll be discussing how to unravel, interpret, and use matches in the rest of this article.

browser MyHeritage example.png

The chromosome browser at MyHeritage looks quite similar. However, I have a different “top 7” matches because each vendor has people who test on their platform who don’t test or transfer elsewhere.

Each vendor that supports chromosome browsers (FamilyTreeDNA, MyHeritage, 23andMe, and GedMatch) provides their own implementation, of course, but the fundamentals of chromosome browsers, how they work and what they are telling us is universal.

Why Do I Need a Chromosome Browser?

“But,” you might say, “I don’t need to compare my DNA with my matches because the vendors already tell me that I match someone, which confirms that we are related and share a common ancestor.”

Well, not exactly. It’s not quite that straightforward.

Let’s take a look at:

  • How and why people match
  • What matches do and don’t tell you
  • Both with and without a chromosome browser

In part, whether you utilize a chromosome browser or not depends on which of the following you seek:

  • A broad-brush general answer; yes or no, I match someone, but either I don’t know how are related, or have to assume why. There’s that assume word again.
  • To actually confirm and prove your ancestry, getting every ounce of value out of your DNA test.

Not everyone’s goals are the same. Fortunately, we have an entire toolbox with a wide range of tools. Different tools are better suited for different tasks.

People seeking unknown parents should read the article, Identifying Unknown Parents and Individuals Using DNA Matching because the methodology for identifying unknown parents is somewhat different than working with genealogy. This article focuses on genealogy, although the foundation genetic principles are the same.

If you’re just opening your DNA results for the first time, the article, First Steps When Your DNA Results are Ready – Sticking Your Toe in the Genealogy Water would be a great place to start.

Before we discuss chromosome browsers further, we need to talk about DNA inheritance.

Your Parents

Every person has 2 copies of each of their 22 chromosomes – one copy contributed by their mother and one copy contributed by their father. A child receives exactly half of the autosomal DNA of each parent. The DNA of each parent combines somewhat randomly so that you receive one chromosome’s worth of DNA from each of your parents, which is half of each parent’s total.

On each chromosome, you receive some portion of the DNA that each parent received from their ancestors, but not exactly half of the DNA from each individual ancestor. In other words, it’s not sliced precisely in half, but served up in chunks called segments.

Sometimes you receive an entire segment of an ancestor’s DNA, sometimes none, and sometimes a portion that isn’t equal to half of your parent’s segment.

browser inheritance.png

This means that you don’t receive exactly half of the DNA of each of your grandparents, which would be 25% each. You might receive more like 22% from one maternal grandparent and 28% from the other maternal grandparent for a total of 50% of the DNA you inherit from your parents. The other 50% of your DNA comes from the other parent, of course. I wrote about that here.

There’s one tiny confounding detail. The DNA of your Mom and Dad is scrambled in you, meaning that the lab can’t discern scientifically which side is which and can’t tell which pieces of DNA came from Mom and which from Dad. Think of a genetic blender.

Our job, using genetic genealogy, is to figure out which side of our family people who match us descend from – which leads us to our common ancestor(s).

Parallel Roads

For the purposes of this discussion, you’ll need to understand that the two copies you receive of each chromosome, one from each parent, have the exact same “addresses.” Think of these as parallel streets or roads with identical addresses on each road.

browser street.png

In the example above, you can see Dad’s blue chromosome and Mom’s red chromosome as compared to me. Of course, children and parents match on the full length of each chromosome.

I’ve divided this chromosome into 6 blocks, for purposes of illustration, plus the centromere where we generally find no addresses used for genetic genealogy.

In the 500 block, we see that the address of 510 Main (red bar) could occur on either Dad’s chromosome, or Mom’s. With only an address and nothing more, you have no way to know whether your match with someone at 510 Main is on Mom’s or Dad’s side, because both streets have exactly the same addresses.

Therefore, if two people match you, at the same address on that chromosome, like 510 Main Street, they could be:

  • Both maternal matches, meaning both descended from your mother’s ancestors, and those two people will also match each other
  • Both paternal matches, meaning both descended from your father’s ancestors, and those two people will also match each other
  • One maternal and one paternal match, and those two people will not match each other

Well then, how do we know which side of the family a match descends from, and how do we know if we share a common ancestor?

Good question!

Identical by Descent

If you and another person match on a reasonably sized DNA segment, generally about 7 cM or above, your match is probably “identical by descent,” meaning not “identical by chance.” In this case, then yes, a match does confirm that you share a common ancestor.

Identical by descent (IBD) means you inherited the piece of DNA from a common ancestor, inherited through the relevant parent.

Identical by chance (IBC) means that your mom’s and dad’s DNA just happens to have been inherited by you randomly in a way that creates a sequence of DNA that matches that other person. I wrote about both IBD and IBC here.

MMB stats by cM 2

This chart, courtesy of statistician Philip Gammon, from the article Introducing the Match-Maker-Breaker Tool for Parental Phasing shows the percentage of time we expect matches of specific segment sizes to be valid, or identical by descent.

Identical by Chance

How does this work?

How is a match NOT identical by descent, meaning that it is identical by chance and therefore not a “real” or valid match, a situation also known as a false positive?

browser inheritance grid.png

The answer involves how DNA is inherited.

You receive a chromosome with a piece of DNA at every address from both parents. Of course, this means you have two pieces of DNA at each address. Therefore people will match you on either piece of DNA. People from your Dad’s side will match you on the pieces you inherited from him, and people from your Mom’s side will match you on the pieces you inherited from her.

However, both of those matches have the same address on their parallel streets as shown in the illustration, above. Your matches from your mom’s side will have all As, and those from your dad’s side will have all Ts.

The problem is that you have no way to know which pieces you inherited from Mom and from Dad – at least not without additional information.

You can see that for 10 contiguous locations (addresses), which create an example “segment” of your DNA, you inherited all As from your Mom and all Ts from your Dad. In order to match you, someone would either need to have an A or a T in one of their two inherited locations, because you have an A and a T, both. If the other person has a C or a G, there’s no match.

Your match inherited a specific sequence from their mother and father, just like you did. As you can see, even though they do match you because they have either an A or a T in all 10 locations – the As and Ts did not all descend from either their mother or father. Their random inheritance of Ts and As just happens to match you.

If your match’s parents have tested, you won’t match either of their parents nor will they match either of your parents, which tells you immediately that this match is by chance (IBC) and not by descent (IBD), meaning this segment did not come from a common ancestor. It’s identical by chance and, therefore, a false positive.

If We Match Someone Else In Common, Doesn’t That Prove Identical by Descent?

Nope, but I sure wish it did!

The vendors show you who else you and your match both match in common, which provides a SUGGESTION as to your common ancestor – assuming you know which common ancestor any of these people share with you.

browser icw.png

However, shared matches are absolutely NOT a guarantee that you, your match, and your common matches all share the same ancestor, unless you’re close family. Your shared match could match you or your match through different ancestors – or could be identical by chance.

How can we be more confident of what matching is actually telling us?

How can we sort this out?

Uncertainties and Remedies

Here’s are 9 things you DON’T know, based on matching alone, along with tips and techniques to learn more.

  1. If your match to Person A is below about 20cM, you’ll need to verify that it’s a legitimate IBD match (not IBC). You can achieve this by determining if Person A also matches one of your parents and if you match one of Person A’s parents, if parents have tested.

Not enough parents have tested? An alternative method is by determining if you and Person A both match known descendants of the candidate ancestors ON THE SAME SEGMENT. This is where the chromosome browser enters the picture.

In other words, at least three people who are confirmed to descend from your presumptive common ancestor, preferably through at least two different children, must match on a significant portion of the same segment.

Why is that? Because every segment has its own unique genealogical history. Each segment can and often does lead to different ancestors as you move further back in time.

In this example, I’m viewing Buster, David, and E., three cousins descended from the same ancestral couple, compared to me on my chromosome browser. I’m the background grey, and they show in color. You can see that all three of them match me on at least some significant portion of the same segment of chromosome 15.

browser 3 cousins.png

If those people also match each other, that’s called triangulation. Triangulation confirms descent from a common ancestral source.

In this case, I already know that these people are related on my paternal side. The fact that they all match my father’s DNA and are therefore all automatically assigned to my paternal matching tab at Family Tree DNA confirms my paper-trail genealogy.

I wrote detailed steps for triangulation at Family Tree DNA, here. In a nutshell, matching on the same segment to people who are bucketed to the same parent is an automated method of triangulation.

Of course, not everyone has the luxury of having their parents tested, so testing other family members, finding common segments, and assigning people to their proper location in your tree facilitates confirmation of your genealogy (and automating triangulation.)

The ONLY way you can determine if people match you on the same segment, and match each other, is having segment information available to you and utilizing a chromosome browser.

browser MyHeritage triangulation.png

In the example above, the MyHeritage triangulation tool brackets matches that match you (the background grey) and who are all triangulated, meaning they all also match each other. In this case, the portion where all three people match me AND each other is bracketed. I wrote about triangulation at MyHeritage here.

  1. If you match several people who descend from the same ancestor, John Doe, for example, on paper, you CANNOT presume that your match to all of those people is due to a segment of DNA descended from John Doe or his wife. You may not match any of those people BECAUSE OF or through segments inherited from John Doe or his wife. You need segment information and a chromosome browser to view the location of those matches.

Assuming these are legitimate IBD matches, you may share another common line, known or unknown, with some or all of those matches.

It’s easy to assume that because you match and share matches in common with other people who believe they are descended from that same ancestor:

  • That you’re all matching because of that ancestor.
  • Even on the same segments.

Neither of those presumptions can be made without additional information.

Trust me, you’ll get yourself in a heap o’ trouble if you assume. Been there, done that. T-shirt was ugly.

Let’s look at how this works.

browser venn.png

Here’s a Venn diagram showing me, in the middle, surrounded by three of my matches:

  • Match 1 – Periwinkle, descends from Lazarus Estes and Elizabeth Vannoy
  • Match 2 – Teal, descends from Joseph Bolton and Margaret Claxton
  • Match 3 – Mustard, descends from John Y. Estes and Rutha Dodson

Utilizing a chromosome browser, autocluster software, and other tools, we can determine if those matches also match each other on a common segment, which means they triangulate and confirm common ancestral descent.

Of course, those people could match each other due to a different ancestor, not necessarily the one I share with them nor the ancestors I think we match through.

If they/we do all match because they descend from a common ancestor, they can still match each other on different segments that don’t match me.

I’m in the center. All three people match me, and they also match each other, shown in the overlap intersections.

Note that the intersection between the periwinkle (Match 1) and teal (Match 2) people, who match each other, is due to the wives of the children of two of my ancestors. In other words, their match to each other has absolutely nothing to do with their match to me. This was an “aha’ moment for me when I first realized this was a possibility and happens far more than I ever suspected.

The intersection of the periwinkle (Match 1) and mustard (Match 3) matches is due to the Dodson line, but on a different segment than they both share with me. If they had matched each other and me on the same segment, we would be all triangulated, but we aren’t.

The source of the teal (Match 2) to mustard (Match 3) is unknown, but then again, Match 3’s tree is relatively incomplete.

Let’s take a look at autocluster software which assists greatly with automating the process of determining who matches each other, in addition to who matches you.

  1. Clustering technology, meaning the Leeds method as automated by Genetic Affairs and DNAGedcom help, but don’t, by themselves, resolve the quandary of HOW people match you and each other.

People in a colored cluster all match you and each other – but not necessarily on the same segment, AND, they can match each other because they are related through different ancestors not related to your ancestor. The benefit of autocluster software is that this process is automated. However, not all of your matches will qualify to be placed in clusters.

browser autocluster.png

My mustard cluster above includes the three people shown in the chromosome browser examples – and 12 more matches that can be now be researched because we know that they are all part of a group of people who all match me, and several of whom match each other too.

My matches may not match each other for a variety of reasons, including:

  • They are too far removed in time/generations and didn’t inherit any common ancestral DNA.
  • This cluster is comprised of some people matching me on different (perhaps intermarried) lines.
  • Some may be IBC matches.

Darker grey boxes indicate that those people should be in both clusters, meaning the red and mustard clusters, because they match people in two clusters. That’s another hint. Because of the grid nature of clusters, one person cannot be associated with more than 2 clusters, maximum. Therefore, people like first cousins who are closely related to the tester and could potentially be in many clusters are not as useful in clusters as they are when utilizing other tools.

  1. Clusters and chromosome browsers are much less complex than pedigree charts, especially when dealing with many people. I charted out the relationships of the three example matches from the Venn diagram. You can see that this gets messy quickly, and it’s much more challenging to visualize and understand than either the chromosome browser or autoclusters.

Having said that, the ultimate GOAL is to identify how each person is related to you and place them in their proper place in your tree. This, cumulatively with your matches, is what identifies and confirms ancestors – the overarching purpose of genealogy and genetic genealogy.

Let’s take a look at this particular colorized pedigree chart.

Browser pedigree.png

click to enlarge

The pedigree chart above shows the genetic relationship between me and the three matches shown in the Venn diagram.

Four descendants of 2 ancestral couples are shown, above; Joseph Bolton and Margaret Claxton, and John Y. Estes and Rutha Dodson. DNA tells me that all 3 people match me and also match each other.

The color of the square (above) is the color of DNA that represents the DNA segment that I received and match with these particular testers. This chart is NOT illustrating how much DNA is passed in each generation – we already know that every child inherits half of the DNA of each parent. This chart shows match/inheritance coloring for ONE MATCHING SEGMENT with each match, ONLY.

Let’s look at Joseph Bolton (blue) and Margaret Claxton (pink). I descend through their daughter, Ollie Bolton, who married William George Estes, my grandfather. The DNA segment that I share with blue Match 2 (bottom left) is a segment that I inherited from Joseph Bolton (blue). I also carry inherited DNA from Margaret Claxton too, but that’s not the segment that I share with Match 2, which is why the path from Joseph Bolton to me, in this case, is blue – and why Match 2 is blue. (Just so you are aware, I know this segment descends from Joseph Bolton, because I also match descendants of Joseph’s father on this segment – but that generation/mtach is not shown on this pedigree chart.)

If I were comparing to someone else who I match through Margaret Claxton, I would color the DNA from Margaret Claxton to me pink in that illustration. You don’t have to DO this with your pedigree chart, so don’t worry. I created this example to help you understand.

The colored dots shown on the squares indicate that various ancestors and living people do indeed carry DNA from specific ancestors, even though that’s not the segment that matches a particular person. In other words, the daughter, Ollie, of Joseph Bolton and Margaret Claxton carries 50% pink DNA, represented by the pink dot on blue Ollie Bolton, married to purple William George Estes.

Ollie Bolton and William George Estes had my father, who I’ve shown as half purple (Estes) and half blue (Bolton) because I share Bolton DNA with Match 2, and Estes DNA with Match 1. Obviously, everyone receives half of each parent’s DNA, but in this case, I’m showing the path DNA descended for a specific segment shared with a particular match.

I’ve represented myself with the 5 colors of DNA that I carry from these particular ancestors shown on the pedigree chart. I assuredly will match other people with DNA that we’ve both inherited from these ancestors. I may match these same matches shown with DNA that we both inherited from other ancestors – for example, I might match Match 2 on a different segment that we both inherited from Margaret Claxton. Match 2 is my second cousin, so it’s quite likely that we do indeed share multiple segments of DNA.

Looking at Match 3, who knows very little about their genealogy, I can tell, based on other matches, that we share Dodson DNA inherited through Rutha Dodson.

I need to check every person in my cluster, and that I share DNA with on these same segment addresses to see if they match on my paternal side and if they match each other.

  1. At Family Tree DNA, I will be able to garner more information about whether or not my matches match each other by using the Matrix tool as well as by utilizing Phased Family Matching.

At Family Tree DNA, I determined that these people all match in common with me and Match 1 by using the “In Common With” tool. You can read more about how to use “In Common With” matching, here.

browser paternal.png

Family Matching phases the matches, assigning or bucketed them maternally or paternally (blue and red icons above), indicating, when possible, if these matches occur on the same side of your family. I wrote about the concept of phasing, here, and Phased Family Matching here and here.

Please note that there is no longer a limit on how distantly related a match can be in order to be utilized in Phased Family Matching, so long as it’s over the phase-matching threshold and connected correctly in your tree.

browser family tree dna link tree.png

Bottom line, if you can figure out how you’re related to someone, just add them into your tree by creating a profile card and link their DNA match to them by simply dragging and dropping, as illustrated above.

Linking your matches allows Family Matching to maternally or paternally assign other matches that match both you and your tree-linked matches.

If your matches match you on the same segment on the same parental side, that’s segment triangulation, assuming the matches are IBD. Phased Family Matching does this automatically for you, where possible, based on who you have linked in your tree.

For matches that aren’t automatically bucketed, there’s another tool, the Matrix.

browser matrix.png

In situations where your matches aren’t “bucketed” either maternally or paternally, the Matrix tool allows you to select matches to determine whether your matches also match each other. It’s another way of clustering where you can select specific people to compare. Note that because they also match each other (blue square) does NOT mean it’s on the same segment(s) where they match you. Remember our Venn diagram.

browser matrix grid.png

  1. Just because you and your matches all match each other doesn’t mean that they are matching each other because of the same ancestor. In other words, your matches may match each other due to another or unknown ancestor. In our pedigree example, you can see that the three matches match each other in various ways.
browser pedigree match.png

click to enlarge

  • Match 1 and Match 2 match each other because they are related through the green Jones family, who is not related to me.
  • Match 2 and Match 3 don’t know why they match. They both match me, but not on the same segment they share with each other.
  • Match 1 and Match 3 match through the mustard Dodson line, but not on the same segment that matches me. If we all did match on the same segment, we would be triangulated, but we wouldn’t know why Match 3 was in this triangulation group.
  1. Looking at a downloaded segment file of your matches, available at all testing vendors who support segment information and a chromosome browser, you can’t determine without additional information whether your matches also match each other.

browser chr 15.png

Here’s a group of people, above, that we’ve been working with on chromosome 15.

My entire match-list shows many more matches on that segment of chromosome 15. Below are just a few.

browser chr 15 all

Looking at seven of these people in the chromosome browser, we can see visually that they all overlap on part of a segment on chromosome 15. It’s a lot easier to see the amount of overlap using a browser as opposed to the list. But you can only view 7 at a time in the browser, so the combination of both tools is quite useful. The downloaded spreadsheet shows you who to select to view for any particular segment.

browser chr 15 compare.png

The critical thing to remember is that some matches will be from tyour mother’s side and some from your father’s side.

Without additional information and advanced tools, there’s no way to tell the difference – unless they are bucketed using Phased Family Matching at Family Tree DNA or bracketed with a triangulation bracket at MyHeritage.

At MyHeritage, this assumes you know the shared ancestor of at least one person in the triangulation group which effectively assigns the match to the maternal or paternal side.

Looking at known relatives on either side, and seeing who they also match, is how to determine whether these people match paternally or maternally. In this example below, the blue people are bucketed paternally through Phased Family Matching, the pink maternally, and the white rows aren’t bucketed and therefore require additional evaluation.

browser chr 15 maternal paternal.png

Additional research shows that Jonathan is a maternal match, but Robert and Adam are identical by chance because they don’t match either of my parents on this segment. They might be valid matches on other segments, but not this one.

browser chr 15 compare maternal paternal.png

  1. Utilizing relatives who have tested is a huge benefit, and why we suggest that everyone test their closest upstream relatives (meaning not children or grandchildren.) Testing all siblings is recommended if both parents aren’t available to test, because every child received different parts of their parents’ DNA, so they will match different relatives.

After deleting segments under 7 cM, I combine the segment match download files of multiple family members (who agree to allow me to aggregate their matches into one file for analysis) so that I can create a master match file for a particular family group. Sorting by match name, I can identify people that several of my cousins’ match.

browser 4 groups.png

This example is from a spreadsheet where I’ve combined the results of about 10 collaborating cousins to determine if we can break through a collective brick wall. Sorted by match name, this table shows the first 4 common matches that appear on multiple cousin’s match lists. Remember that how these people match may have nothing to do with our brick wall – or it might.

Note that while the 4 matches, AB, AG, ag, and A. Wayne, appear in different cousins’ match lists, only one shares a common segment of DNA: AB triangulates with Buster and Iona. This is precisely WHY you need segment information, and a chromosome browser, to visualize these matches, and to confirm that they do share a common DNA segment descended from a specific ancestor.

These same people will probably appear in autocluster groups together as well. It’s worth noting, as illustrated in the download example, that it’s much more typical for “in common with” matches to match on different segments than on the same segment. 

  1. Keep in mind that you will match both your mother and father on every single chromosome for the entire length of each chromosome.

browser parent matching.png

Here’s my kit matching with my father, in blue, and mother, in red on chromosomes 1 and 2.

Given that I match both of my parents on the full chromosome, inheriting one copy of my chromosome from each parent, it’s impossible to tell by adding any person at random to the chromosome browser whether they match me maternally or paternally. Furthermore, many people aren’t fortunate enough to have parents available for testing.

To overcome that obstacle, you can compare to known or close relatives. In fact, your close relatives are genetic genealogy gold and serve as your match anchor. A match that matches you and your close relatives can be assigned either maternally or paternally. I wrote about that here.

browser parent plus buster.png

You can see that my cousin Buster matches me on chromosome 15, as do both of my parents, of course. At this point, I can’t tell from this information alone whether Buster matches on my mother’s or father’s side.

I can tell you that indeed, Buster does match my father on this same segment, but what if I don’t have the benefit of my father’s DNA test?

Genealogy tells me that Buster matches me on my paternal side, through Lazarus Estes and Elizabeth Vannoy. Given that Buster is a relatively close family member, I already know how Buster and I are related and that our DNA matches. That knowledge will help me identify and place other relatives in my tree who match us both on the same segment of DNA.

To trigger Phased Family Matching, I placed Buster in the proper place in my tree at Family Tree DNA and linked his DNA. His Y DNA also matches the Estes males, so no adoptions or misattributed parental events have occurred in the direct Estes patrilineal line.

browser family tree dna tree.png

I can confirm this relationship by checking to see if Buster matches known relatives on my father’s side of the family, including my father using the “in common with” tool.

Buster matches my father as well as several other known family members on that side of the family on the same segments of DNA.

browser paternal bucket.png

Note that I have a total of 397 matches in common with Buster, 140 of which have been paternally bucketed, 4 of which are both (my children and grandchildren), and 7 of which are maternal.

Those maternal matches represent an issue. It’s possible that those people are either identical by chance or that we share both a maternal and paternal ancestor. All 7 are relatively low matches, with longest blocks from 9 to 14 cM.

Clearly, with a total of 397 shared matches with Buster, not everyone that I match in common with Buster is assigned to a bucket. In fact, 246 are not. I will need to take a look at this group of people and evaluate them individually, their genealogy, clusters, the matrix, and through the chromosome browser to confirm individual matching segments.

There is no single perfect tool.

Every Segment Tells a Unique History

I need to check each of the 14 segments that I match with Buster because each segment has its own inheritance path and may well track back to different ancestors.

browser buster segments.png

It’s also possible that we have unknown common ancestors due to either adoptions, NPEs, or incorrect genealogy, not in the direct Estes patrilineal line, but someplace in our trees.

browser buster paint.png

The best way to investigate the history and genesis of each segment is by painting matching segments at DNAPainter. My matching segments with Buster are shown painted at DNAPainter, above. I wrote about DNAPainter, here.

browser overlap.png

By expanding each segment to show overlapping segments with other matches that I’ve painted and viewing who we match, we can visually see which ancestors that segment descends from and through.

browser dnapainter walk back.png

These roughly 30 individuals all descend from either Lazarus Estes and Elizabeth Vannoy (grey), Elizabeth’s parents (dark blue), or her grandparents (burgundy) on chromosome 15.

As more people match me (and Buster) on this segment, on my father’s side, perhaps we’ll push this segment back further in time to more distant ancestors. Eventually, we may well be able to break through our end-of-line brick wall using these same segments by looking for common upstream ancestors in our matches’ trees.

Arsenal of Tools

This combined arsenal of tools is incredibly exciting, but they all depend on having segment information available and understanding how to use and interpret segment and chromosome browser match information.

One of mine and Buster’s common segments tracks back to end-of-line James Moore, born about 1720, probably in Virginia, and another to Charles Hickerson born about 1724. It’s rewarding and exciting to be able to confirm these DNA segments to specific ancestors. These discoveries may lead to breaking through those brick walls eventually as more people match who share common ancestors with each other that aren’t in my tree.

This is exactly why we need and utilize segment information in a chromosome browser.

We can infer common ancestors from matches, but we can’t confirm segment descent without specific segment information and a chromosome browser. The best we can do, otherwise, is to presume that a preponderance of evidence and numerous matches equates to confirmation. True or not, we can’t push further back in time without knowing who else matches us on those same segments, and the identity of their common ancestors.

The more evidence we can amass for each ancestor and ancestral couple, the better, including:

  • Matches
  • Shared “In Common With” Matches, available at all vendors.
  • Phased Family Matching at Family Tree DNA assigns matches to maternal or paternal sides based on shared, linked DNA from known relatives.
  • The Matrix, a Family Tree DNA tool to determine if matches also match each other. Tester can select who to compare.
  • ThruLines from Ancestry is based on a DNA match and shared ancestors in trees, but no specific segment information or chromosome browser. I wrote about ThruLines here and here.
  • Theories of Family Relativity, aka TOFR, at MyHeritage, based on shared DNA matches, shared ancestors in trees and trees constructed between matches from various genealogical records and sources. MyHeritage includes a chromosome browser and triangulation tool. I wrote about TOFR here and here.
  • Triangulation available through Phased Family Matching at Family Tree DNA and the integrated triangulation tool at MyHeritage. Triangulation between only 3 people at a time is available at 23andMe, although 23andMe does not support trees. See triangulation article links in the Resource Articles section below.
  • AutoClusters at MyHeritage (cluster functionality included), at Genetic Affairs (autoclusters plus tree reconstruction) and at DNAGedcom (including triangulation).
  • Genealogical information. Please upload your trees to every vendor site.
  • Y DNA and mitochondrial DNA confirmation, when available, through Family Tree DNA. I wrote about the 4 Kinds of DNA for Genetic Genealogy, here and the importance of Y DNA confirmation here, and how not having that information can trip you up.
  • Compiled segment information at DNAPainter allows you to combine segment information from various vendors, paint your maternal and paternal chromosomes, and visually walk segments back in time. Article with DNAPainter instructions is found here.

Autosomal Tool Summary Table

In order to help you determine which tool you need to use, and when, I’ve compiled a summary table of the types of tools and when they are most advantageous. Of course, you’ll need to read and understand about each tool in the sections above. This table serves as a reminder checklist to be sure you’ve actually utilized each relevant tool where and how it’s appropriate.

Family Tree DNA MyHeritage Ancestry 23andMe GedMatch
DNA Matches Yes Yes Yes Yes, but only highest 2000 minus whoever does not opt -in Yes, limited matches for free, more with subscription (Tier 1)
Download DNA Segment Match Spreadsheet Yes Yes No, must use DNAGedcom for any download, and no chromosome segment information Yes Tier 1 required, can only download 1000 through visualization options
Segment Spreadsheet Benefits View all matches and sort by segment, target all people who match on specific segments for chromosome browser View all matches and sort by segment, target all people who match on specific segments for chromosome browser No segment information but matches might transfer elsewhere where segment information is available View up to 2000 matches if matches have opted in. If you have initiated contact with a match, they will not drop off match list. Can download highest 1000 matches, target people who match on specific segments
Spreadsheet Challenges Includes small segments, I delete less than 7cM segments before using No X chromosome included No spreadsheet and no segment information Maximum of 2000 matches, minus those not opted in Download limited to 1000 with Tier 1, download not available without subscription
Chromosome Segment Information Yes Yes No, only total and longest segment, no segment address Yes Yes
Chromosome Browser Yes, requires $19 unlock if transfer Yes, requires $29 unlock or subscription if transfer No Yes Yes, some features require Tier 1 subscription
X Chromosome Included Yes No No Yes Yes, separate
Chromosome Browser Benefit Visual view of 7 or fewer matches Visual view of 7 or fewer matches, triangulation included if ALL people match on same portion of common segment No browser Visual view of 5 or fewer matches Unlimited view of matches, multiple options through comparison tools
Chromosome Browser Challenges Can’t tell whether maternal or paternal matches without additional info if don’t select bucketed matches Can’t tell whether maternal or paternal without additional info if don’t triangulate or you don’t know your common ancestor with at least one person in triangulation group No browser Can’t tell whether maternal or paternal without other information Can’t tell whether maternal or paternal without other information
Shared “In Common With” Matches Yes Yes Yes Yes, if everyone opts in Yes
Triangulation Yes, Phased Family Matching, plus chromosome browser Yes, included in chromosome browser if all people being compared match on that segment No, and no browser Yes, but only for 3 people if “Shared DNA” = Yes on Relatives in Common Yes, through multiple comparison tools
Ability to Know if Matches Match Each Other (also see autoclusters) Yes, through Matrix tool or if match on common bucketed segment through Family Matching Yes, through triangulation tool if all match on common segment No Yes, can compare any person to any other person on your match list Yes, through comparison tool selections
Autoclusters Can select up to 10 people for Matrix grid, also available for entire match list through Genetic Affairs and DNAGedcom which work well Genetic Affairs clustering included free, DNAGedcom has difficulty due to timeouts No, but Genetic Affairs and DNAGedcom work well No, but Genetic Affairs and DNAGedcom work well Yes, Genetic Affairs included in Tier 1 for selected kits, DNAGedcom is in beta
Trees Can upload or create tree. Linking you and relatives who match to tree triggers Phased Family Matching Can upload or create tree. Link yourself and kits you manage assists Theories of Family Relativity Can upload or create tree. Link your DNA to your tree to generate ThruLines. Recent new feature allows linking of DNA matches to tree. No tree support but can provide a link to a tree elsewhere Upload your tree so your matches can view
Matching and Automated Tree Construction of DNA Matches who Share Common Ancestors with You Genetic Affairs for matches with common ancestors with you Not available Genetic Affairs for matches with common ancestors with you No tree support Not available
Matching and Automated Tree Construction for DNA Matches with Common Ancestors with Each Other, But Not With You Genetic Affairs for matches with common ancestors with each other, but not with you Not available Genetic Affairs for matches with common ancestors with each other, but not with you No tree support Not available
DNAPainter Segment Compilation and Painting Yes, bucketed Family Match file can be uploaded which benefits tester immensely. Will be able to paint ethnicity segments soon. Yes No segment info available, encourage your matches to upload elsewhere Yes, and can paint ethnicity segments from 23andMe, Yes, but only for individually copied matches or highest 1000.
Y DNA and Mitochondrial Matching Yes, both, includes multiple tools, deep testing and detailed matching No No No, base haplogroup only, no matching No, haplogroup only if field manually completed by tester when uploading autosomal DNA file

Transfer Your DNA

Transferring your DNA results to each vendor who supports segment information and accepts transfers is not only important, it’s also a great way to extend your testing collar. Every vendor has strengths along with people who are found there and in no other database.

Ancestry does not provide segment information nor a chromosome browser, nor accept uploads, but you have several options to transfer your DNA file for free to other vendors who offer tools.

23andMe does provide a chromosome browser but does not accept uploads. You can download your DNA file and transfer free to other vendors.

I wrote detailed upload/download and transfer instructions for each vendor, here.

Two vendors and one third party support transfers into their systems. The transfers include matching. Basic tools are free, but all vendors charge a minimal fee for unlocking advanced tools, which is significantly less expensive than retesting:

Third-party tools that work with your DNA results include:

All vendors provide different tools and have unique strengths. Be sure that your DNA is working as hard as possible for you by fishing in every pond and utilizing third party tools to their highest potential.

Resource Articles

Explanations and step by step explanations of what you will see and what to do, when you open your DNA results for the first time.

Original article about chromosomes having 2 sides and how they affect genetic genealogy.

This article explains what triangulation is for autosomal DNA.

Why some matches may not be valid, and how to tell the difference.

This article explains the difference between a match group, meaning a group of people who match you, and triangulation, where that group also matches each other. The concepts are sound, but this article relies heavily on spreadsheets, before autocluster tools were available.

Parental phasing means assigning segment matches to either your paternal or maternal side.

Updated, introductory article about triangulation, providing the foundation for a series of articles about how to utilize triangulation at each vendor (FamilyTreeDNA, MyHeritage, 23andMe, GEDmatch, DNAPainter) that supports triangulation.

These articles step you through triangulation at each vendor.

DNAPainter facilitates painting maternally and paternally phased, bucketed matches from FamilyTreeDNA, a method of triangulation.

Compiled articles with instructions and ideas for using DNAPainter.

Autoclustering tool instructions.

How and why The Leeds Method works.

Step by step instructions for when and how to use FamilyTreeDNA’s chromosome browser.

Close family members are the key to verifying matches and identifying common ancestors.

This article details how much DNA specific relationships between people can expect to share.

Overview of transfer information and links to instruction articles for each vendor, 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 Products and Services

Genealogy Research

Fun DNA Stuff

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

Shared cM Project 2020 Analysis, Comparison & Handy Reference Charts

Recently, Blaine Bettinger published V4 of the Shared cM Project, and along with that, Jonny Perl at DNAPainter updated the associated interactive tool as well, including histograms. I wrote about that, here.

The goal of the shared cM project was and remains to document how much DNA can be expected to be shared by various individuals at specific relationship levels. This information allows matches to at least minimally “position” themselves in a general location their trees or conversely, to eliminate specific potential relationships.

Shared cM Project match data is gathered by testers submitting their match information through the submission portal, here.

When the Shared cM Project V3 was released in September 2017, I combined information from various sources and provided an analysis of that data, including the changes from the V2 release in 2016.

I’ve done the same thing this year, adding the new data to the previous release’s table.

Compiled Comparison Table

I initially compiled this table for myself, then decided to update it and share with my readers. This chart allows me to view various perspectives on shared data and relationships and in essence has all the data I might need, including multiple versions, in one place. Feel free to copy and save the table.

In the comparison table below, the relationship rows with data from various sources is shown as follows:

  • White – Shared cM Project 2016
  • Peach – Shared cM Project 2017
  • Purple – Shared cM Project 2020
  • Green – DNA Detectives chart

I don’t know if DNA Detectives still uses the “green chart” or if they have moved to the interactive DNAPainter tool. I’ve retained the numbers for historical reference regardless.

Additionally, in some places, you’ll see references to the “degree of relationship,” as in “third degree relatives always match each other.” I’ve included a “Degree of Relationship” column to the far right, but I don’t come across those “relationship degree” references often anymore either. However, it’s here for reference if you need it.

23andMe still gives relationships in percentages, so I’ve included the expected shared percent of DNA for each relationship and the actual shared range from the DNA Detectives Green Chart.

One column shows the expected shared cM amount, assuming that 50% of the DNA from each ancestor is passed on in each generation. Clearly, we know that inheritance doesn’t happen that cleanly because recombination is a random event and children do NOT inherit exactly half of each ancestor’s DNA carried by their parents, but the average should be someplace close to this number.

shared cm table 2020

click to open separately, then use your magnifier to enlarge

The first thing I noticed about V4 is that there is a LOT more data which means that the results are likely more accurate. V4 increased by 32K data points, or 147%. Bravo to everyone who participated, to Blaine for the analysis and to Jonny for automating the results at DNAPainter.

Methods

Blaine provided his white paper, here, which includes “everything you need to know” about the project, and I strongly encourage you to read it. Not only does this document explain the process and methods, it’s educational in its own right.

On the first page, Blaine discusses issues. Any time you are crowd sourcing information, you’re going to encounter challenges and errors. Blaine did remove any entries that were clearly problematic, plus an additional 1% of all entries for each category – .5% from each end meaning the largest and smallest entries. This was done in an attempt to remove the results most likely to be erroneous.

Known issues include:

  • Data entry errors – I refer to these as “clerical mutations,” but they happen and there is no way, unless the error is egregious, to know what is a typo and what is real. Obviously, a parent sharing only a 10 cM segment with a child is not possible, but other data entry errors are well within the realm of possible.
  • Incorrect relationships – Misreported or misunderstood relationships will skew the numbers. Relationships may be believed to be one type, but are actually something else. For example, a half vs full sibling, or a half vs full aunt or uncle.
  • Misunderstood Relationships – People sometimes become confused as to the difference between “half” and “removed” from time to time. I wrote a helpful article titled Quick Tip – Calculating Cousin Relationships Easily.
  • Endogamy – Endogamy occurs when a population intermarries within itself, meaning that the same ancestral DNA is present in many members of the community. This genetic result is that you may share more DNA with those cousins than you would otherwise share with cousins at the same distance without endogamy.
  • Pedigree Collapse – Pedigree collapse occurs when you find the same ancestors multiple times in your tree. The closer to current those ancestors appear, the more DNA you will potentially carry from those repeat ancestors. The difference between endogamy and pedigree collapse is that endogamy is a community event and pedigree collapse has only to do with your own tree. You might just have both, too.
  • Company Reporting Differences – Different companies report DNA in different ways in addition to having different matching thresholds. For example, Family Tree DNA includes in your match total all DNA to 1 cM that you share with a match over the matching threshold. Conversely, Ancestry has a lower matching threshold, but often strips out some matching DNA using Timber. 23andMe counts fully identical segments twice and reports the X chromosome in their totals. MyHeritage does not report the X chromosome. There is no “right” or “wrong,” or standardization, simply different approaches. Hopefully, the variances will be removed or smoothed in the averages.
  • Distant Cousin Relationships – While this isn’t really an issue, per se, it’s important to understand what is being reported beyond 2nd cousin relationships in that the only relationships used to calculate these averages is the DNA from people who DO share DNA with their more distant cousins. In other words, if you do NOT match your 3rd cousin, then your “0” shared DNA is not included in the average. Only those who do match have their matching amounts included. This means that the average is only the average of people who match, not the average of all 3rd cousins.

Challenges aside, the Shared cM Project provides genealogists with a wonderful opportunity to use the combined data of tens of thousands of relationships to estimate and better understand the relationship range of our matches.

The Shared cM Project in combination with DNAPainter provides us with a wonderful tool.

Histograms

When analyzing the data, one of the first things I noticed was a very unusual entry for parent/child relationships.

We all know that children each inherit exactly half of their parent’s DNA. We expect to find an amount in the ballpark of 3400, give or take a bit for normal variances like read errors or reporting differences.

Shared cM parent child.png

click to enlarge

I did not expect to see a minimum shared cM amount for a child/parent relationship at 2376, fully 1024 cM below expected value of 3400 cM. Put bluntly, that’s simply not possible. You cannot live without one third of one of your parent’s DNA. If this data is actually accurate from someone’s account, please contact me because I want to actually see this phenomenon.

I reached out to Blaine, knowing this result is not actually possible, wondering how this would ever get through the quality control cycle at any vendor.

After some discussion, here’s Blaine’s reply:

If you look at the histogram, you’ll see that those are most likely outliers. One of my lessons for the ScP (Shared cM Project) lately is that people shouldn’t be using the data without the histograms.

People get frustrated with this, but I can’t edit data without a basis even if I think it doesn’t make sense. I have to let the data itself decide what data to remove. So I removed 1% from each relationship, the lowest 0.5% and the highest 0.5%. I could have removed more, but based on the histograms, [removing] more appeared to be removing too much valid data. As people submit more parent/child relationships these outliers/incorrect submissions will be removed. But thankfully using the histograms makes it clear.

Indeed, if you look on page 23 on Blaine’s white paper, you’ll see the following histogram of parent/child relationships submitted.

shared cm histogram.png

click to enlarge

Keep in mind that Blaine already removed any obvious errors, plus 1% of the total from either end of the spectrum. In this case, he utilized 2412 submissions, so he would have removed about 24 entries that were even further out on the data spectrum.

On the chart above, we can see that a total of about 14 are still really questionable. It’s not until we get to 3300 that these entries seem feasible. My speculation is that these people meant to type 3400 instead of 2400, and so forth.

shared cm parent grid.png

click to enlarge

The great news is that Jonny Perl at DNAPainter included the histograms so you can judge for yourself if you are in the weeds on the outlier scale by clicking on the relationship.

shared cm parent submissions.png

click to enlarge

Other relationships, like this niece/nephew relationship fit the expected bell shaped curve very nicely.

shared cm niece.png

Of course, this means that if you match your niece or nephew at 900 cM instead of the range shown above, that person is probably not your full niece or nephew – a revelation that may be difficult because of the implications for you, your parent and sibling. This would suggest that your sibling is a half sibling, not a full sibling.

Entering specific amounts of shared DNA and outputting probabilities of specific relationships is where the power of DNAPainter enters the picture. Let’s enter 900 cM and see what happens.

shared cm half niece.png

That 900 cM match is likely your half niece or nephew. Of course, this example illustrates perfectly why some relationships are entered incorrectly – especially if you don’t know that your niece or nephew is a half niece or nephew – because your sibling is a half-sibling instead of a full sibling. Some people, even after receiving results don’t realize there is a discrepancy, either because their data is on the boundary, with various relationships being possible, or because they don’t understand or internalize the genetic message.

shared cm full siblings.png

click to enlarge

This phenomenon probably explains the low minimum value for full siblings, because many of those full siblings aren’t. Let’s enter 1613 and see what DNAPainter says.

shared cm half sibling.png

You’ll notice that DNAPainter shows the 1613 cM relationship as a half-sibling.

shared cm sibling.png

And the histogram indeed shows that 1613 would be the outlier. Being larger that 1600, it would appear in the 1700 category.

shared cm half vs full.png

click to enlarge

Accurately discerning close relationships is often incredibly important to testers. In the histogram chart above, you can see that the blue and orange histograms plotted on the same chart show that there is only a very small amount of overlap between the two histograms. This suggests that some people, those in the overlap range, who believe they are full siblings are in reality half-siblings, and possibly, a few in the reverse situation as well.

What Else is Noteworthy?

First, some relationships cannot be differentiated or sorted out by using the cM data or histogram charts alone.

shared cm half vs aunt.png

click to enlarge

For example, you cannot tell the difference between half-siblings and an aunt/uncle relationship. In order to make that determination, you would need to either test or compare to additional people or use other clues such as genealogical research or geographic proximity.

Second, the ranges of many relationships are wider than they were before. Often, we see the lows being lower and the highs being higher as a result of more data.

shared cm low high.png

click to enlarge

For example, take a look at grandparents. The expected relationship is 1700 cM, the average is 1754 which is very close to the previous average numbers of 1765 and 1766. However, the minimum is now 984 and the new maximum is 2462.

Why might this be? Are ranges actually wider?

Blaine removed 1% each time, which means that in V3, 6 results would have been removed, 3 from each end, while 11 would be removed in V4. More data means that we are likely to see more outliers as entries increase, with the relationship ranges are increasingly likely to overlap on the minimum and maximum ends.

Third, it’s worth noting that several relationships share an expected amount of DNA that is equal, 12.5% which equals 850 cM, in this example.

shared cm 4 relationships.png

click to enlarge

These four relationships appear to be exactly the same, genetically. The only way to tell which one of these relationships is accurate for a given match pair, aside from age (sometimes) and opportunity, is to look at another known relationship. For example, how closely might the tester be related to a parent, sibling, aunt, uncle or first cousin, or one of their other matches. Occasionally, an X chromosome match will be enlightening as well, given the unique inheritance path of the X chromosome.

Additional known relationships help narrow unknown relationships, as might Y DNA or mitochondrial DNA testing, if appropriate. You can read about who can test for the various kinds of tests, here.

Fourth, it’s been believed for several years that all 5th degree relatives, and above, match, and the V4 data confirms that.

shared cm 5th degree.png

click to enlarge

There are no zeroes in the column for minimum DNA shared, 4th column from right.

5th degree relatives include:

  • 2nd cousins
  • 1st cousins twice removed
  • Half first cousins once removed
  • Half great-aunt/uncle

Fifth, some of your more distant cousins won’t match you, beginning with 6th degree relationships.

shared cm disagree.png

click to enlarge

At the 6th degree level, the following relationships may share no DNA above the vendor matching threshold:

  • First cousins three times removed
  • Half first cousins twice removed
  • Half second cousins
  • Second cousins once removed

You’ll notice that the various reporting models and versions don’t always agree, with earlier versions of the Shared cM Project showing zeroes in the minimum amount of DNA shared.

Sixth, at the 7th degree level, some number of people in every relationship class don’t share DNA, as indicated by the zeros in the Shared cM Minimum column.

shared cm 7th degree.png

click to enlarge

The more generations back in time that you move, the fewer cousins can be expected to match.

shared cm isogg cousin match.png

This chart from the ISOGG Wiki Cousin statistics page shows the probability of matching a cousin at a specific level based on information provided by testing companies.

Quick Reference Chart Summary

In summary, V4 of the Shared cM Project confirms that all 2nd cousins can expect to match, but beyond that in your trees, cousins may or may not match. I suspect, without evidence, that the further back in time that people are related, the less likely that the proper “cousinship level” is reported. For example, it would be easier to confuse 7th and 8th cousins as compared to 1st and 2nd cousins. Some people also confuse 8th cousins with 8 generations back in your tree. It’s not equivalent.

shared cm eighth cousin.png

click to enlarge

It’s interesting to note that Degree 17 relatives, 8th cousins, 9 generations removed from each other (counting your parents as generation 1), still match in some cases. Note that some companies and people count you as generation 1, while others count your parents as generation 1.

The estimates of autosomal matching reaching 5 or 6 generations back in time, meaning descendants of common 4 times great-grandparents will sometimes match, is accurate as far as it goes, although 5-6 generations is certainly not a line in the sand.

It would be more accurate to state that:

  • 2nd cousins, people descended from common great-grandparents, 3 generations back in time will always match
  • 4th cousins, people descended from common 3 times great grandparents, 5 generations back in time, will match about half of the time
  • 8th cousins, people descended from 7 times great grandparents, 9 generations back in time still match a small percentage of the time
  • Cousins from more distant ancestors can possibly match, but it’s unlikely and may result from a more recent unknown ancestor

I created this summary chart, combining information from the ISOGG chart and the Shared cM Project as a handy quick reference. Enjoy!

shared cm quick reference.png

click to enlarge

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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

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

DNAPainter has done it again, providing genealogists with a wonderful tool that facilitates separating your matches into maternal and paternal categories so that they can be painted on the proper chromosome – in one fell swoop no less.

Of course, the entire purpose of painting your chromosomes is to identify segments that descend from specific ancestors in order to push those lines back further in time genealogically. Identifying segments, confirming and breaking down brick walls is the name of the game.

DNA Painter New Import Tool

The new DNAPainter tool relies on Family Tree DNA’s Phased Family Matching which assigns your matches to maternal and paternal buckets. On your match list, at the top, you’ll see the following which indicates how many matches you have in total and how many people are assigned to each bucket.

DNAPainter FF import.png

Note that these are individual matches, not total matching segments – that number would be higher.

In order for Family Tree DNA to create bucketed matches for you, you’ll need to:

  • Either create a tree or upload a GEDCOM file
  • Attach your DNA kit to “you” in your tree
  • Attach all 4th cousins and closer with whom you match to their proper location on your tree

Yes, it appears that Family Tree DNA is now using 4th cousins, not just third cousins and closer, which provides for additional bucketed matches.

How reliable is bucketing?

Quite. Occasionally one of two issues arise which becomes evident if you actually compare the matches’ segments to the parent with whom they are bucketed:

  • One or more of your matches’ segments do match you and your parent, but additionally, one or more segments match you, but not your parent
  • The X chromosome is particularly susceptible to this issue, especially with lower cM matches
  • Occasionally, a match that is large enough to be bucketed isn’t, likely because no known, linked cousin shares that segment

Getting Started

Get started by creating or uploading your tree at Family Tree DNA.

DNAPainter mytree.png

After uploading your GEDCOM file or creating your tree at Family Tree DNA, click on the “matches” icon at the top of the tree to link yourself and your relatives to their proper places on your tree. Your matches will show in the box below the helix icon.

DNAPainter FF matches.png

I created an example “twin” for myself to use for teaching purposes by uploading a file from Ancestry, so I’m going to attach that person to my tree as my “Evil Twin.” (Under normal circumstances, I do not recommend uploading duplicate files of anyone.)

DNAPainter FF matches link.png

Just drag and drop the person on your match list on top of their place on the tree.

DNAPainter Ff sister.png

Here I am as my sister, Example Adoptee.

I’ve wished for a very, very long time that there was a way to obtain a list of segment matches sorted by maternal and paternal bucket without having to perform spreadsheet gymnastics, and now there is, at DNAPainter.

DNAPainter does the heavy-lifting so you don’t have to.

What Does DNAPainter Do with Bucketed Matches?

When you are finished uploading two files at DNAPainter, you’ll have:

  • Maternal groups of triangulated matches
  • Paternal groups of triangulated matches
  • Matches that could not be assigned based on the bucketing. Some (but not all) of these matches will be identical by chance – typically roughly 15-20% of your match list. You can read about identical by chance, here.

I’ll walk you through the painting process step by step.

First, you need to be sure your relatives are connected to your tree at Family Tree DNA so that you have matches assigned to your maternal and paternal buckets. The more relatives you connect, per the instructions in the previous section, the more matching people will be able to be placed into maternal or paternal buckets.

Painting Bucketed Matches at DNAPainter

I wrote basic articles about how to use DNAPainter here. If you’re unfamiliar with how to use DNAPainter or it’s new to you, now would be a good time to read those articles. This next section assumes that you’re using DNAPainter. If not, go ahead, register, and set up a profile. One profile is free for everyone, but multiple profiles require a subscription.

First, make a duplicate of the profile that you’re working with. This DNAPainter upload tool is in beta.

DNAPainter duplicate profile.png

Since I’m teaching and experimenting, I am using a fresh, new profile for this experiment. If it works successfully, I’ll duplicate my working profile, just in case something goes wrong or doesn’t generate the results I expect, and repeat these steps there.

Second, at Family Tree DNA, Download a fresh copy of your complete matching segment file. This “Download Segments” link is found at the top right of the chromosome browser page.

DNAPainter ff download segments.png

Third, download your matches at the bottom left of the actual matches page. This file hold information about your matches, such as which ones are bucketed, but no segment information. That’s in the other file.

DNAPainter csv.png

Name both of these files something you can easily identify and that tells them apart. I called the first one “Segments” in front of the file name and the second one “Matches” in front of the file name.

Fourth, at DNAPainter, you’ll need to import your entire downloaded segment file that you just downloaded from Family Tree DNA. I exclude segments under 7cM because they are about 50% identical by chance.

DNAPainter import instructions

click to enlarge

Select the segment file you just named and click on import.

DNAPainter both.png

At this point, your chromosomes at DNAPainter will look like this, assuming you’re using a new profile with nothing else painted.

Let’s expand chromosome 1 and see what it looks like.

DNAPainter chr 1 both.png

Note that all segments are painted over both chromosomes, meaning both the maternal and paternal copies of chromosome 1, partially shown above, because at this point, DNAPainter can’t tell which people match on the maternal and which people match on the paternal sides. The second “matches” file from Family Tree DNA has not yet been imported into DNAPainter, which tells DNAPainter which matches are on the maternal and which are on the paternal chromosomes.

If you’re not workign with a new profile, then you’ll also see the segments you’ve already painted. DNAPainter attempts to NOT paint segments that appear to have previously been painted.

Fifth, at DNAPainter, click on the “Import mat/pat info from ftDNA” link on the left which will provide you with a page to import the matches file information. This is the file that has maternal and paternal sides specified for bucketed matches. DNAPainter needs both the segment file, which you already imported, and the matches file.

DNAPainter import bucket

click to enlarge

After the second import, the “matches” file, my matches are magically redistributed onto their appropriate chromosomes based on the maternal and paternal bucketing information.

I love this tool!

At this point, you will have three groups of matches, assuming you have people assigned to your maternal and paternal buckets.

  • A “Shared” group for people who are related to both of your parents, or who aren’t designated as a bucketed match to either parent
  • Maternal group (pink chromosome)
  • Paternal group (blue chromosome)

It’s Soup!!!

I’m so excited. Now my matches are divided into maternal and paternal chromosome groups.

DNAPainter import complete.png

Just so you know, I changed the colors of my legend at DNAPainter using “edit group,” because all three groups were shades of pink after the import and I wanted to be able to see the difference clearly.

DNAPainter legend.png

Your Painted Chromosomes

Let’s take a look at what we have.

DNAPainter both, mat, pat.png

There’s still pink showing, meaning undetermined, which gets painted over both the maternal and paternal chromosomes, but there’s also a lot of magenta (maternal) and blue (paternal) showing now too as a result of bucketing.

Let’s look at chromosome 1.

DNAPainter chr 1 all.png

This detail, which is actually a summary, shows that the bucketed maternal (magenta) and paternal (blue) matches have actually covered most of the chromosome. There are still a few areas without coverage, but not many.

For a genealogist, this is beautiful!!!

How many matches were painted?

DNAPainter paternal total.png

DNAPainter maternal total.png

Expanding chromosome 1, and scrolling to the maternal portion, I can now see that I have several painted maternal segments, and almost the entire chromosome is covered.

Here’s the exciting part!

DNAPainter ch1 1 mat expanded.png

I stared the relatives I know, on the painting, above and on the pedigree chart, below. The green group descends through Hiram Ferverda and Eva Miller, the yellow group through Antoine Lore and Rachel Hill. The blue group is Acadian, upstream of Antoine Lore.

DNAPainter maternal pedigree.png

Those ancestors are shown by star color on my pedigree chart.

I can now focus on the genealogies of the other unstarred people to see if their genealogy can push those segments back further in time to older ancestors.

On my Dad’s side, the first part of chromosome 1 is equally as exciting.

DNAPainter chr 1 pat expanded.png

The yellow star only pushed this triangulated group back only to my grandparents, but the green star is from a cousin descended from my great-grandparents. The red star matches are even more exciting, because my common ancestor with Lawson is my brick wall – Marcus Younger and his wife, Susanna, surname unknown, parents of Mary Younger.

DNAPainter paternal pedigree.png

I need to really focus hard on this cluster of 12 people because THEIR common ancestors in their trees may well provide the key I need to push back another generation – through the brick wall. That is, after all, the goal of genetic genealogy.

Woohoooo!

Manual Spreadsheet Compare

Because I decided to torture myself one mid-winter day, and night, I wanted to see how much difference there is between the bucketed matches that I just painted and actual matches that I’ve identified by downloading my parents’ segment match files and mine and comparing them manually against each other. I removed any matches in my file that were not matches to my parent, in addition to me, then painted the rest.

I’ll import the resulting manual spreadsheet into the same experimental DNAPainter profile so we can view matches that were NOT painted previously. DNAPainter does not paint matches previously painted, if it can tell the difference. Since both of these files are from downloads, without the name of the matches being in any way modified, DNAPainter should be able to recognize everyone and only paint new segment matches.

Please note here that the PERSON unquestionably belongs bucketed to the parental side in question, but not all SEGMENTS necessarily match you and your parent. Some will not, and those are the segments that I removed from my spreadsheet.

DNAPainter manual spreadsheet example.png

Here’s a made-up example where I’ve combined my matches and my mother’s matches in one spreadsheet in order to facilitate this comparison. I colored my Mom’s matches green so they are easy to see when comparing to my own, then sorting by the match name.

Person 1 matches me and Mom both, at 10 cM on chromosome 1. Person 1 is assigned to my maternal side due to the matches above 9 cM, the lowest threshold at Family Tree DNA for bucketing.

In this example, we can see that Person 1 matches me and Mom (colored green), both, on the segment on chromosome 1. That match, bracketed by red, is a valid, phased, match and should be painted.

However, Person 1 also matches me, but NOT Mom on chromosome 2. Because Person 1 is bucketed to mother, this segment on chromosome 2 will also be painted to my maternal chromosome 2 using the DNAPainter import. The only way to sort this out is to do the comparison manually.

The same holds true for the X match shown. The two segments shown in red should NOT be painted, but they will be unless you are willing to compare you and your parents’ matches manually, you will just have to evaluate segments individually when you see that you’re working in a cluster where matches have been assigned through the mass import tool.

If you choose to compare the spreadsheets manually to assure that you’re not painting segments like the red ones above, DNAPainter provides instructions for you to create your own mass upload template, which is what I did after removing any segment matches of people that were not “in common” between me and mother on the same chromosomal segment, like the red ones, above.

Please note that if you delete the erroneous segments and later reimport your bucketed matches, they will appear again. I’m more inclined to leave them, making a note.

I did not do a manual comparison of my father’s side of the tree after discovering just how little difference was found on my mother’s side, and how much effort was involved in the manual comparison.

Creating a Mass Upload Template and File

DNAPainter custom mass upload.png

The instructions for creating your own mass upload file are provided by DNAPainter – please follow them exactly.

In my case, after doing the manual spreadsheet compare with my mother, only a total of 18 new segments were imported that were not previously identified by bucketing.

Three of those segments were over 15cM, but the rest were smaller. I expected there would be more. Family Tree DNA is clearly doing a great job with maternal and paternal bucketing assignments, but they can’t do it without known relatives that have also tested and are linked to your tree. The very small discrepancy is likely due to matches with cousins that I have not been able to link on my tree.

The great news is that because DNAPainter recognizes already-painted segments, I can repeat this anytime and just paint the new segments, without worrying about duplicates.

  • The information above pertains to segments that should have been painted, but weren’t.
  • The information below pertains to segments that were painted, but should not have been.

I did not keep track of how many segments I deleted that would have erroneously been painted. There were certainly more than 18, but not an overwhelming number. Enough though to let me know to be careful and confirm the segment match individually before using any of the mass uploaded matches for hypothesis or conclusions.

Given that this experiment went well, I created a copy of my “real” profile in order to do the same import and see what discoveries are waiting!

Before and After

Before I did the imports into my “real” file (after making a copy, of course,) I had painted 82% of my DNA using 1700 segments. Of course, each one of those segments in my original profile is identified with an ancestor, even if they aren’t very far back in time.

Although I didn’t paint matches in common with my mother before this mass import, each of my matches in common with my mother are in common with one or the other of my maternal grandparents – and by using other known matches I can likely push the identity of those segments further back in time.

Status Percent Segments Painted
Before mass Phased Family Match bucketed import 82 1700
After mass Phased Family Match bucketed import 88 7123
After additional manual matches with my mother added 88 7141

While I did receive 18 additional matching segments by utilizing the manually intensive spreadsheet matching and removal process, I did not receive enough more matches to justify the hours and hours of work. I won’t be doing that anymore with Family Tree DNA files since they have so graciously provided bucketing and DNAPainter can leverage that functionality.

Those hours will be much better spent focusing on unraveling the ancestors whose stories are told in clusters of triangulated matches.

I Love The Import Tool, But It’s Not Perfect

Keep in mind that the X chromosome needs a match of approximately twice the size of a regular chromosome to be as reliable. In other words, a 14 cM threshold for the X chromosome is roughly equivalent to a 7 cM match for any other chromosome. Said another way, a 7 cM match on the X is about equal to a 3.5 cM match on any other chromosome.

X matches are not created equal.

The SNP density on the X chromosome is about half that of the other chromosomes, making it virtually impossible to use the same matching criteria. I don’t encourage using matches of less than 500 SNPs unless you know you’re in a triangulated group and WITH at least a few larger, proven matches on that segment of the X chromosome.

Having said that, X matches, due to their unique inheritance path can persist for many generations and be extremely useful. You can read about working with the X chromosome here and here.

I noticed when I was comparing segments in the manual spreadsheet that I had to remove many X matches with people who had identical matches on other chromosomes with me and my mother. In other words, just because they matched my mother and me exactly on one chromosome, that phasing did not, by default, extend to matching on other segments.

I checked my manually curated file and discovered that I had a total of seven X matches that should have been, and were, painted because they matched me and Mom both.

DNAPainter X spreadsheet example.png

However, there were many that didn’t match me and Mom both, matching only me, that were painted because that person was bucketed (assigned) to my maternal side because a different segment phased to mother correctly.

On the X chromosome, here’s what happened.

DNAPainter maternal X.png

You can see that a lot more than 7 bright red matches were painted – 26 more to be exact. That’s because if an individual is bucketed on your maternal or paternal side, it’s presumed that all of the matching segments come from the same ancestor and are legitimate, meaning identical by descent and not by chance. They aren’t. Every single segment has an inheritance path and story of its own – and just because one segment triangulates does NOT mean that other segments that match that person will triangulate as well.

The X chromosome is the worst case scenario of course, because these 7 cM segments are actually as reliable as roughly 3.5 cM segments on any other chromosome, which is to say that more than 50% of them will be incorrect. However, some will be accurate and those will match me and mother both. 21% of the X matches to people who phased and triangulated on other chromosomes were accurate – 79% were not. Thankfully, we have phasing, bucketing and tools like this to be able to tell the difference so we can utilize the 21% that are accurate. No one wants to throw the baby out with the bath water, nor do we want to chase after phantoms.

Keep in mind that Phased Family Matching, like any other tool, is just that, a tool and needs some level of critical analysis.

Every Segment Has Its Own Story

We know that every single DNA segment has an independent inheritance path and story of its own. (Yes, I’ve said that several time now because it’s critically important so that you don’t wind up barking up the wrong tree, literally, pardon the pun.)

In the graphic above of my painted X chromosome matches, only the six matches with green stars are on the hand-curated match list. One had already been painted previously. The balance of the bright red matches were a part of the mass import and need to be deleted. Additionally, one of the accurate matches did not upload for some reason, so I’ll add that one manually.

I suggest that you go ahead and paint your bucketed segments, but understand that you may have a red herring or two in your crop of painted segment matches.

As you begin to work with these clusters of matches, check your matching segments with your parents (or other family members who were used in bucketing) and make sure that all the segments that have been painted by bulk upload actually match on all of the same segments.

If you have a parent that tested, there is no need to see if you and your match match other relatives on that same side. If your match does not match you and your parent on some significant overlapping portion of that same segment, the match is invalid. DNA does not “skip generations.”

If you don’t have a parent that has tested, your known relatives are your salvation, and the key to bucketed matches.

The great news is that you can easily see that a bulk match was painted from the coloring of the batch import. As you discover the relevant genealogy and confirm that all segments actually match your parent (or another family member, if you don’t have parents to test,) move the matching person to the appropriately colored ancestral group.

I further recommend that you hand curate the X chromosome using a spreadsheet. The nature of the X makes depending on phased matching too risky, especially with a tool like DNAPainter that can’t differentiate between a legitimate and non-legitimate match. The X chromosome matches are extraordinarily valuable because they can be useful in ways that other chromosomes can’t be due to the X’s unique inheritance path.

What About You?

If you don’t have your DNA at Family Tree DNA and you have tested elsewhere, you can transfer your DNA file for free, allowing you to see your matches and use many of the Family Tree DNA tools. However, to access the chromosome browser, which you’ll need for DNA painting, you’ll need to purchase the unlock for $19, but that’s still a lot less than retesting.

Here are transfer instructions for transferring your DNA file from 23andMe, Ancestry or MyHeritage.

If you have not purchased a Family Finder test at Family Tree DNA and don’t have a DNA file to transfer, you can order a test here.

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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

Y DNA: Part 2 – The Dictionary of DNA

After my introductory article, Y DNA: Part 1 – Overview, I received several questions about terminology, so this second article will be a dictionary or maybe more like a wiki. Many terms about Y DNA apply to mitochondrial and autosomal as well.

Haplogroup – think of your Y or mitochondrial DNA haplogroup as your genetic clan. Haplogroups are assigned based on SNPs, specific nucleotide mutations that change very occasionally. We don’t know exactly how often, but the general schools of thought are that a new SNP mutation on the Y chromosome occurs someplace between every 80 and 145 years. Of course, those would only be averages. I’ve as many as two mutations in a father son pair, and no mutations for many generations.

Dictionary haplogroup.png

Y DNA haplogroups are quite reliably predicted by STR results at Family Tree DNA, meaning the results of a 12, 25, 37, 67 or 111 marker tests. Haplogroups are only confirmed or expanded from the estimate by SNP testing of the Y chromosome. Predictions are almost always accurate, but only apply to the upper level base haplogroups. I wrote about that in the article, Haplogroups and the Three Brothers.

Haplogroups are also estimated by some companies, specifically 23andMe and LivingDNA who provide autosomal testing. These companies estimate Y and mitochondrial haplogroups by targeting certain haplogroup defining locations in your DNA, both Y and mitochondrial. That doesn’t mean they are actually obtaining Y and mtDNA information from autosomal DNA, just that the chip they are using for DNA processing targets a few Y and mitochondrial locations to be read.

Again, the only way to confirm or expand that haplogroup is to test either your Y or mitochondrial DNA directly. I wrote about that in the article Haplogroup Comparisons Between Family Tree DNA and 23andMe and Why Different Haplogroup Results?.

Nucleotide – DNA is comprised of 4 base nucleotides, abbreviated as T (Thymine), A (Adenine), C (Cytosine) and G (Guanine.) Every DNA address holds one nucleotide.

In the DNA double helix, generally, A pairs with T and C pairs with G.

Dictionary helix structure.png

Looking at this double helix twist, green and purple “ladder rungs” represent the 4 nucleotides. Purple and green and have been assigned to one bonding pair, either A/T or C/G, and red and blue have been assigned to the other pair.

When mutations occur, most often A or T are replaced with their paired nucleotide, as are C and G. In this example, A would be replaced with T and vice versa. C with G and vice versa.

Sometimes that’s not the case and a mutation occurs that pairs A with C or G, for example.

For Y DNA SNPs, we care THAT the mutation occurred, and the identity of the replacing nucleotide so we know if two men match on that SNP. These mutations are what make DNA in general, and Y DNA in particular useful for genealogy.

The rest of this nucleotide information is not something you really need to know, unless of course you’re playing in the jeopardy championship. (Yes, seriously.) The testing lab worries about these things, as well as matching/not matching, so you don’t need to.

SNP – Single nucleotide polymorphism, pronounced “snip.” A mutation that occurs when the nucleotide typically found at a particular location (the ancestral value) is replaced with one of the other three nucleotides (the derived value.) SNPs that mutate are called variants.

In Y DNA, after discovery and confirmation that the SNP mutation is valid and carried by more than one man, the mutation is given a name something like R-M269 where R is the base haplogroup and M269 reflects the lab that discovered and named the SNP (M = Peter Underhill at Stanford) and an additional number, generally the next incremental number named by that lab (269).

Some SNPs were discovered simultaneously by different labs. When that happens, the same mutation in the identical location is given different names by different organizations, resulting in multiple names for the name mutation in the same DNA location. These are considered equivalent SNPs because they are identical.

In some cases, SNPs in different locations seem to define the same tree branching structure. These are functionally equivalent until enough tests are taken to determine a new branching structure, but they are not equivalent in the sense that the exact same DNA location was named by two different labs.

Some confusion exists about Y DNA SNP equivalence.

Equivalence Confusion How This Happens Are They the Same?
Same exact DNA location named by two labs Different SNP names for the same DNA location, named by two different labs at about the same time Exactly equivalent because SNPs are named for the the exact same DNA locations, define only one tree branch ever
Different DNA locations and SNP names, one current tree branch Different SNPs temporarily located on same branch of  the tree because branches or branching structure have not yet been defined When enough men test, different branches will likely be sorted out for the non-equivalent SNPs pointing to newly defined branch locations that divide the tree or branch

Let’s look at an example where 4 example SNPs have been named. Two at the same location, and two more for two additional locations. However, initially, we don’t know how this tree actually looks, meaning what is the base/trunk and what are branches, so we need more tests to identify the actual structure.

Dictionary SNPs before branching.png

The example structure of a haplogroup R branch, above, shows that there are three actual SNP locations that have been named. Location 1 has been given two different SNP names, but they are the same exact location. Duplicate names are not intentionally given, but result from multiple labs making simultaneous discoveries.

However, because we don’t have enough information yet, meaning not enough men have tested that carry at least some of the mutations (variants,), we can’t yet define trunks and branches. Until we do, all 4 SNPs will be grouped together. Examples 1 and 2 will always be equivalent because they are simply different names for the exact same DNA location. Eventually, a branching structure will emerge for Examples 1/2, Example 3 and Example 4..

Dictionary SNP branches.png

Eventually, the downstream branches will be defined and split off. It’s also possible that Example 4 would be the trunk with Examples 1 and 2 forming a branch and Example 3 forming a branch. Branching tree structure can’t be built without sufficient testers who take the NGS tests, specifically the Big Y-700 which doesn’t just confirm a subset of existing named SNPs, but confirms all named SNPs, unnamed variants and discovers new previously-undiscovered variants which define the branching tree structure.

SNP testing occurs in multiple ways, including:

  • NGS, next generation sequencing, tests such as the Big Y-700 which scans the gold standard region of the Y chromosome in order to find known SNPs at specific locations, mutations (variants) not yet named as SNPs, previously undiscovered variants and minimally 700 STR mutations.
  • WGS, whole genome sequencing although there currently exist no bundled commercial tools to separate Y DNA information from the rest of the genome, nor any comparison methodology that allows whole genome information to be transferred to Family Tree DNA, the only commercial lab that does both testing and matching of NGS Y DNA tests and where most of the Y DNA tests reside. There can also be quality issues with whole genome sequencing if the genome is not scanned a similar number of times as the NGS Y tests. The criteria for what constitues a “positive call” for a mutation at a specific location varies as well, with little standardization within the industry.
  • Targeted SNP testing of a specific SNP location. Available at Family Tree DNA  and other labs for some SNP locations, this test would only be done if you are looking for something very specific and know what you are doing. In some cases, a tester will purchase one SNP to verify that they are in a particular lineage, but there is no benefit such as matching. Furthermore, matching on one SNP alone does not confirm a specific lineage. Not all SNPs are individually available for purchase. In fact, as more SNPs are discovered at an astronomical rate, most aren’t available to purchase separately.
  • SNP panels which test a series of SNPs within a certain haplogroup in order to determine if a tester belongs to a specific subclade. These tests only test known SNPs and aren’t tests of discovery, scanning the useable portion of the Y chromosome. In other words, you will discern whether you are or are not a member of the specific subclades being tested for, but you will not learn anything more such as matching to a different subclade, or new, undiscovered variants (mutations) or subclades.

Subclade – A branch of a specific upstream branch of the haplotree.

Dictionary R.png

For example, in haplogroup R, R1 and R2 are subclades of haplogroup R. The graphic above conveys the concept of a subclade. Haplogroups beneath R1 and R2, respectively, are also subclades of haplogroup R as well as subclades of all clades above them on the haplotree.

Older naming conventions used letter number conventions such as R1 and R2 which expanded to R1b1c and so forth, alternating letters and numbers.

Today, we see most haplogroups designated by the haplogroup letter and SNP name. Using that notation methodology, R would be R-M207, R1 would be R-M173 and R2 would be R-M479.

Dictionary R branches.png

ISOGG documents Y haplogroup naming conventions and their history, maintaining both an alphanumeric and SNP tree for backwards compatibility. The reason that the alphanumeric tree was obsoleted was because there was no way to split a haplogroup like R1b1c when a new branch appeared between R1b and R1b1 without renaming everything downstream of R1b, causing constant reshuffling and renaming of tree branches. Haplogroup names were becoming in excess of 20 characters long. Today, the terminal SNP is used as a person’s haplogroup designation. The SNP name never changes and the individual’s Y haplogroup only changes if:

  • Further testing is performed and the tester is discovered to have an additional mutation further downstream from their current terminal SNP
  • A SNP previously discovered using the Big Y NGS test has since been named because enough men were subsequently discovered to carry that mutation, and the newly named SNP is the tester’s terminal SNP

Terminal SNP – It’s really not fatal. Used in this context, “terminal” means end of line, meaning furthest down and closest to present in the haplotree.

Depending on what level of testing you’ve undergone, you may have different haplogroups, or SNPs, assigned as your official “end of line” haplogroup or “terminal SNP” at various times.

If you took any of the various STR panel tests (12, 25, 37, 67 or 111) at Family Tree DNA your SNP was predicted based on STR matches to other men. Let’s say that prediction is R-M198. At that time, R-M198 was your terminal SNP. If you took the Big Y-700 test, your terminal SNP would almost assuredly change to something much further downstream in the haplotree.

If you took an autosomal test, your haplogroup was predicted based on a panel of SNPs selected to be informative about Y or mitochondrial DNA haplogroups. As with predicted haplogroups from STR test panels, the only way to discover a more definitive haplogroup is with further testing.

If you took a Y DNA STR test, you can see by looking at your match list that other testers may have a variety of “terminal SNPs.”

Dictionary Y matches.png

In the above example, the tester was originally predicted as R-M198 but subsequently took a Big Y test. His haplogroup now is R-YP729, a subclade of R-M198 several branches downstream.

Looking at his Y DNA STR matches to view the haplogroups of his matches, we see that the Y DNA predicted or confirmed haplogroup is displayed in the Y-DNA Haplogroup column – and several other men are M198 as well.

Anyone who has taken any type of confirming SNP test, whether it’s an individual SNP test, a panel test or the Big Y has their confirmed haplogroup at that level of testing listed in the Terminal SNP column. What we don’t know and can’t tell is whether the men whose Terminal SNP is listed as R-M198 just tested that SNP or have undergone additional SNP testing downstream and tested negative for other downstream SNPs. We can tell if they have taken the Big Y test by looking at their tests taken, shown by the red arrows above.

If the haplogroup has been confirmed by any form of SNP testing, then the confirmed haplogroup is displayed under the column, “Terminal SNP.” Unfortunately, none of this testers’ matches at this STR marker level have taken the Big Y test. As expected, no one matches him on his Terminal SNP, meaning his SNP farthest down on the tree. To obtain that level of resolution, one would have to take the Big Y test and his matches have not.

Dictionary Y block tree.png

Looking at this tester’s Big Y Block Tree results, we can see that there are indeed 3 people that match him on his terminal SNP, but none of them match him on the STR tests which generally produce genealogical matches closer in time. This suggests that these haplogroup level matches are a result of an ancestor further back in time. Note that these men also have an average of 5 variants each that are currently unnamed. These may eventually be named and become baby branches.

SNP matches can be useful genealogically, depending on when they occurred, or can originate further back in time, perhaps before the advent of surnames.

Our tester’s paternal ancestors migrated from Germany to Hungary in the late 1700s or 1800s, settling in a region now in Croatia, but he’s brick-walled on his paternal line due to record loss during the various wars.

The block tree reveals that the tester’s Big Y SNP match is indeed from Germany, born in 1718, with other men carrying this same terminal SNP originating in both Hungary and Germany even though they aren’t shown as a STR marker match to our tester.

You can read more about the block tree in the article, Family Tree DNA’s New Big Y Block Tree.

Haplotype – your individual values for results of gene sequencing, such as SNPs or STR values tested in the 12, 25, 37, 67 and 111 marker panels at Family Tree DNA. The haplotype for the individual shown below would be 13 for location DYS393, 26 for location DYS390, 16 for location DYS19, and so forth.

Dictionary panel 1.png

The values in a haplotype tend to be inherited together, so they are “unique” to you and your family. In this case, the Y DNA STR values of 13, 26, 16 and 10 are generally inherited together (unless a new mutation occurs,) passed from father to son on the Y chromosome. Therefore, this person’s haplotype is 13, 26, 16 and 10 for these 4 markers.

If this haplotype is rare, it may be very unique to the family. If the haplotype is common, it may only be unique to a much larger haplogroup reaching back hundreds or thousands of years. The larger the haplotype, the more unique it tends to be.

STR – Short tandem repeat. I think of a short tandem repeat as a copy machine or a stutter error. On the Y chromosome, the value of 13 at the location DYS393 above indicates that a series of DNA nucleotides is repeated a total of 13 times.

Indel example 1

Starting with the above example, let’s see how STR values accrue mutations.

STR example

In the example above, the value of CT was repeated 4 times in this DNA sequence, for a total of 5, so 5 would be the marker value.

Indel example 3

DNA can have deletions where the DNA at one or more locations is deleted and no DNA is found at that location, like the missing A above.

DNA can also have insertions where a particular value is inserted one or more times.

Dictionary insertion example.png

For example, if we know to expect the above values at DNA locations 1-10, and an insertion occurs between location 3 and 4, we know that insertion occurred because the alignment of the pattern of values expected in locations 4-10 is off by 1, and an unexpected T is found between 3 and 4, which I’ve labeled 3.1.

Dictionary insertion example 1.png

STR, or copy mutations are different from insertions, deletions or SNP mutations, shown below, where one SNP value is actually changed to another nucleotide.

Indel example 2

Haplotree – the SNP trees of humanity. Just a few years ago, we thought that there were only a few branches on the Y and mitochondrial trees of humanity, but the Big Y test has been a game changer for Y DNA.

At the end of 2019, the tree originating in Africa with Y chromosome Adam whose descendants populated the earth is comprised of more than 217,277 variants divided into 24,838 individual Y haplotree branches

A tree this size is very difficult to visualize, but you can take a look at Family Tree DNA’s public Y DNA tree here, beginning with haplogroup A. Today, there 25,880 branches, increased by more than 1000 branches in less than 3 weeks since year end. This tree is growing at breakneck speed as more men take the Big Y-700 test and new SNPs are discovered.

On the Public Y Tree below, as you expand each haplogroup into subgroups, you’ll see the flags representing the locations of where the testers’ most distant paternal ancestor lived.

Dictionary public tree.png

I wrote about how to use the Y tree in the article Family Tree DNA’s PUBLIC Y DNA Haplotree.

The mitochondrial tree can be viewed here. I wrote about to use the mitochondrial tree in the article Family Tree DNA’s Mitochondrial Haplotree.

Need Something Else?

I’ll be introducing more concepts and terms in future articles on the various Y DNA features. In the mean time, be sure to use the search box located in the upper right-hand corner of the blog to search for any term.

DNAexplain search box.png

For example, want to know what Genetic Distance means for either Y or mitochondrial DNA? Just type “genetic distance” into the search box, minus the quote marks, and press enter.

Enjoy and stay tuned for Part 3 in the Y DNA series, coming soon.

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DNA Inherited from Grandparents and Great-Grandparents

Philip Gammon, our statistician friend has been working with crossover simulations again in order to tell us what we might expect relative to how much DNA we actually inherit from grandparents and great-grandparents.

We know that on average, we’re going to inherit 25% of our DNA from each grandparent – but we also know in reality that’s not what happens. We get more or less than exactly 25% from each person in a grandparent pair. It’s the total of the DNA of both grandparents that adds up to 50% for the couple.

How does this work, and does it make a difference whether we inherit our grandparent’s DNA through males or females?

Philip has answers for us as a result of his simulations.

DNA Inheritance from Grandparents

Philip Gammon:

When we consider the DNA that we inherit from our ancestors the only quantity that we can be certain of is that we receive half of our autosomal DNA from each parent. This is delivered to us in the form of the 22 segments (i.e. chromosomes) provided by our mothers in the ova and the 22 segments/chromosomes provided by our fathers in the sperm cell. Beyond parent-child relationships we tend to talk about averages. For instance, we receive an average of one quarter of our DNA from each of our four grandparents and an average of one-eighth of our DNA from each of our eight great-grandparents etc.

These figures vary because our parents didn’t necessarily pass on to us equal portions of the DNA that they received from their parents. The level of variation is driven by the number (and location) of crossover events that occur when the ova and the sperm cells are created.

The statistics relevant to the recombination process were discussed in detail in a previous article (Crossovers: Frequency and Inheritance Statistics – Male Versus Female Matters). With the availability these days of abundant real data from direct-to-consumer genetic testing companies (such as the 23andMe data utilised by Campbell et. al. in their paper titled “Escape from crossover interference increases with maternal age”) we can use this information as a basis for simulations that accurately mimic the crossover process. From these simulations we can measure the amount of variation that is expected to be observed in the proportions of DNA inherited from our ancestors. This is precisely what I have done in simulations run on my GAT-C model.

Before looking at the simulation results let’s anticipate what we expect to see. The previous article on crossover statistics revealed that there are an average of about 42 crossovers in female meiosis and about 27 in male meiosis. So, on the set of 22 chromosomes received from our mothers there will have been an average of 42 crossover locations where there was a switch between DNA she inherited from one parent to the other. That means that the DNA we inherit from our maternal grandparents typically comes in about 64 segments, but it won’t necessarily be 32 segments from each maternal grandparent. Chromosomes that experienced an odd number of crossovers contain an even number of segments (half originating from the grandmother, the other half from the grandfather) but chromosomes with an even number of crossovers (or zero!) have an odd number of segments so on these chromosomes you must receive one more segment from one grandparent than the other. And of course not all segments are the same size either. A single crossover occurring close to one end of the chromosome results in a small segment from one grandparent and a large segment from the other. All up there are quite a few sources of variation that can affect the amount of DNA inherited from grandparents. The only certainty here is that the amount inherited from the two maternal grandparents must add to 50%. If you inherit more than the average of 25% from one maternal grandparent that must be offset by inheriting less than 25% from the other maternal grandparent.

Gammon grandparents maternal percent.png

The above chart shows the results of 100,000 simulation runs. Excluding the bottom and top 1% of results, 98% of people will receive between 18.7% and 31.3% of their DNA from a maternal grandparent. The more darkly shaded region in the centre shows the people who receive a fairly even split of between 24% and 26% from the maternal grandparents. Only 28.8% of people are in this region and the remainder receive a less even contribution.

On the set of 22 chromosomes received from fathers there will have been an average of around 27 crossovers so the DNA received from the paternal grandparents has only been split into around 49 segments. It’s the same amount of DNA as received from mothers but just in larger chunks of the grandparent’s DNA. This creates greater opportunity for the father to pass on unequal amounts of DNA from the two grandparents so it would be expected that results from paternal inheritance will show more variation than from maternal inheritance.

Gammon grandparents paternal percent.png

The above chart shows the results of 100,000 simulated paternal inheritance events. They are more spread out than the maternal events with the middle 98% of people receiving between 16.7% and 33.3% of their DNA from a paternal grandparent. Only 21.9% of people receive a fairly even split of between 24% and 26% from each paternal grandparent as shown by the more darkly shaded region in the centre.

Gammon grandparents percent cM.png

To help with the comparison between maternal and paternal inheritance from grandparents the two distributions have been overlayed on the same scale in the chart above. And what are the chances of receiving a fairly even split of grandparents DNA from both your mother and your father? Only 6.3% of people can be expected to inherit an amount of between 24% and 26% of their DNA from all four grandparents.

Now I’ll extend the simulations out to the next generation and examine the variation in proportions of DNA inherited from the eight great-grandparents. There are effectively four groups of great-grandparents:

  • Mother’s maternal grandparents
  • Mother’s paternal grandparents
  • Father’s maternal grandparents
  • Father’s paternal grandparents

The DNA from group 1 has passed to you via two maternal recombination events, from your mother’s mother to your mother, then from your mother to you. On average there would have been 42 crossovers in each of these recombination events. Group 4 comprised two paternal recombination events averaging only 27 crossovers in each. The average amount of DNA received along each path is the same but along the group 1 path it would comprise of more numerous smaller segments than the group 4 path. Groups 2 and 3 would be somewhere between, both consisting of one maternal and one paternal recombination event.

Gammon greatgrandparents percent cM.png

The above chart shows the variation in the amount of DNA received from members of the four groups of great-grandparents. 25,000 simulations were performed. The average amount from any great-grandparent is 12.5% but there can be considerably more variation in the amount received from the father’s paternal grandparents than from the mother’s maternal grandparents. Groups 2 and 3 are between these two extremes and are equivalent. It doesn’t matter whether a paternal recombination follows a maternal one or vice versa – the end result is that both paths consist of the same average number of crossovers.

The table below shows the range in the amount of DNA that people receive from their great-grandparents. The bottom and top 1% of outcomes have been excluded. Note that these are based on a total of 3,418 cM for the 22 autosomes which is the length observed in the Campbell et. al. study. The average of 12.5% of total DNA is 854.5 cM:

Group 1st percentile 99th percentile
Mother’s maternal grandparents 522 cM 1219 cM
Mother’s paternal grandparents 475 cM 1282 cM
Father’s maternal grandparents 475 cM 1281 cM
Father’s paternal grandparents 426 cM 1349 cM

As a matter of interest, in each of the 25,000 simulations the amount of DNA received from the eight great-grandparents were sorted into order from the highest cM to the lowest cM. The averages of each of these eight amounts were then calculated and the results are below:

Gammon greatgrandparents average cM.png

On average, a person receives 1,129 cM from the great-grandparent that they inherited the most of their DNA from and only 600 cM from the great-grandparent that they received the least of their DNA from. But none of us are the result of 25,000 trials – we are each the product of recombination events that occurred once only. The above chart shows the average or typical variation in the amount of DNA received from the eight great-grandparents. Half of people will have experienced more variation than shown above and half of people will have experienced less variation.

Could you have received the same amount of DNA from all eight grandparents? Of course, it is possible, but it turns out that it is extremely unlikely. The average is 12.5% (854.5 cM) so anything between 12% (820.4 cM) and 13% (888.7 cM) could be considered as being close to this figure. The results reveal that this did not occur in any of the 25,000 simulations. Not one person received amounts between 12% and 13% from all eight great-grandparents.

Widening the criteria, I observe that there were 13 instances in the 25,000 simulations where people received between 11.5% and 13.5% of their DNA from all eight great-grandparents. That is still an extremely rare occurrence. Expanding the range further to between 11% and 14% saw a total of 126 instances, but this still only represents about half a percent of all observations. I think that we just have to face the fact that unless we are an extremely rare individual then we will not have inherited close to equal amounts of DNA from our eight great-grandparents.

Now, back to Roberta.

Thanks Philip.

Now we see why we might not inherit the same amount of DNA from our grandparents and great-grandparents.

We Don’t Have Equal Numbers of Matches on Tree Branches

This also might explain, at least in part, why people don’t have the same number of DNA matches on each branch of their tree.

Of course, other reasons include:

  • Uneven family sizes
  • Fewer or more cousins testing on different branches
  • Recent immigration meaning there are few people available to test
  • Family from a region where DNA testing and/or genealogy is not popular
  • Endogamy which dramatically increases the number of people you will match

Real Life Example

In our real-life example, two grandchildren are fortunate to have three grandparents and one great-grandparent available for matching.

For comparison purposes, let’s take a look at how many matches each grandchild has in common with their grandparents and great-grandparent.

The line of descent is as follows:

Gammon line of descent.png

Both end of line testers are female children.

The transmission path from their great-grandmother is:

  • Female to their paternal grandmother
  • Female to their father
  • Male to female tester

The transmission path from their maternal grandfather is:

  • Male to their mother
  • Female to female tester

The transmission path from their maternal grandmother is:

  • Female to their mother
  • Female to female tester

This first chart shows the number of common matches.

Matches Grand 1 Grand 2 GGF GGM Grand 3 Grand 4
Female 1 absent 1061 absent 238 529 1306
Female 2 absent 1225 absent 431 700 1064

It’s interesting that the matches in just 3 generations to the great-grandmother vary by 55%. The second tester has almost twice as many matches in common with her great-great-grandmother as she does the first tester. There a difference in the earlier generation, meaning matches to Grand 2, but only about 23%. That difference increased significantly in one generation.

The second chart shows the total number of matching cM with the matching family member.

Total cM Grand 1 Grand 2 GGF GGM Grand 3 Grand 4
Female 1 absent 1688 absent 713 1601 1818
Female 2 absent 1750 absent 852 1901 1511

We can see that the amount of DNA inherited from a grandparent does correlate with the number of matches to that grandparents. The more DNA shared, of course the better the chances of sharing that DNA with another person. However, multiple factors may be involved with why some people have more or fewer matches.

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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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Top 10 All-Time Favorite DNA Articles

Top 10

I’ve been writing about DNA is every shape and form for approaching 8 years now, offering more than 1200 free (key word seachable) articles.

First, thank you for being loyal subscribers or finding my articles and using them to boost your genealogy research with the power of DNA.

You may not know this, but many of my articles stem from questions that blog readers ask, plus my own genealogical research stumbling-blocks, of course.

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More than twice that number of comments were relegated to spam. That’s exactly why I approve each one personally.

Old Faithful

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Your Favorites

You didn’t realize it, but every time you click, you’re voting.

So, which articles are reader favorites? Remember that older articles have had more time to accumulate views.

I’ve noted the all-time ranking along with the 2019 ranking.

Starting with number 10, you chose:

  • Number 10 all-time, did not place in top 10 in 2019: Ethnicity Testing – A Conundrum – Published in 2016 – How ethnicity testing works – and why sometimes it doesn’t work like people expect it will.

Ethnicity results from DNA testing. Fascinating. Intriguing. Frustrating. Exciting. Fun. Challenging. Mysterious. Enlightening. And sometimes wrong. These descriptions all fit. Welcome to your personal conundrum! The riddle of you! If you’d like to understand why your ethnicity results might not have … Continue reading →

  • Number 9 all time and number 4 in 2019: How Much Indian Do I Have in Me? – Published in 2015 – This article explains how to convert that family story into an expected percentage.

I can’t believe how often I receive this question. Here’s today’s version from Patrick. “My mother had 1/8 Indian and my grandmother on my father’s side was 3/4, and my grandfather on my father’s side had 2/3. How much would … Continue reading →

  • Number 8 all-time, did not place in top 10 in 2019: 4 Kinds of DNA for Genetic Genealogy – Published in 2012 – Short, basic and THE article I refer people to most often to understand DNA for genealogy.

Let’s talk about the different “kinds” of DNA and how they can be used for genetic genealogy. It used to be simple. When this “industry” first started, in the year 2000, you could test two kinds of DNA and it was … Continue reading →

Yep, there’s a gene for these traits, and more. The same gene, named EDAR (short for Ectodysplasin receptor EDARV370A), it turns out, also confers more sweat glands and distinctive teeth and is found in the majority of East Asian people. This is one … Continue reading →

  • Number 6 all-time, did not place in top 10 in 2019: What is a Haplogroup? – Published in 2013 – One of the first questions people ask about Y and mitochondrial DNA is about haplogroups.

Sometimes we’ve been doing genetic genealogy for so long we forget what it’s like to be new. I’m reminded, sometimes humorously, by some of the questions I receive. When I do DNA Reports for clients, each person receives a form to … Continue reading

  • Number 5 all-time and number 10 in 2019: X Marks the Spot – Published in 2012 – This article explains how to use the X chromosome for genealogy and its unique inheritance path.

When using autosomal DNA, the X chromosome is a powerful tool with special inheritance properties. Many people think that mitochondrial DNA is the same as the X chromosome. It’s not. Mitochondrial DNA is inherited maternally, only. This means that mothers … Continue reading →

  • Number 4 all-time, did not place in top 10 in 2019: Ethnicity Results – True or Not? – Published in 2013 – Are your ethnicity results accurate? How can you know, and why might your percentages reflect something different than you expect?

I can’t even begin to tell you how many questions I receive that go something like this: “I received my ethnicity results from XYZ. I’m confused. The results don’t seem to align with my research and I don’t know what … Continue reading →

  • Number 3 all-time and number 1 in 2019: Concepts – Calculating Ethnicity Percentages – Published in 2017 – With the huge number of ethnicity testers, it’s no surprise that the most popular article discussed how those percentages are calculated.

There has been a lot of discussion about ethnicity percentages within the genetic genealogy community recently, probably because of the number of people who have recently purchased DNA tests to discover “who they are.” Testers want to know specifically if ethnicity percentages are right … Continue reading →

  • Number 2 all-time, did not place in top 10 in 2019: Which DNA Test is Best? – Published in 2017 – A comprehensive review of the tests and major vendors in the genetic genealogy testing space. The answer is that your testing goals determine which test is best. This article aligns goals with tests.

If you’re reading this article, congratulations. You’re a savvy shopper and you’re doing some research before purchasing a DNA test. You’ve come to the right place. The most common question I receive is asking which test is best to purchase. There is … Continue reading →

Every day, I receive e-mails very similar to this one. “My family has always said that we were part Native American.  I want to prove this so that I can receive help with money for college.” The reasons vary, and … Continue reading →

2019 Only

Five articles ranked in the top 10 in 2019 that aren’t in the top all-time 10 articles. Two were just published in 2019.

  • Number 8 for 2019: Migration Pedigree Chart – Published in 2016 – This fun article illustrates how to create a pedigree charting focused on the locations of your ancestors.

Paul Hawthorne started a bit of a phenomenon, whether he meant to or not, earlier this week on Facebook, when he created a migration map of his own ancestors using Excel to reflect his pedigree chart. You can view … Continue reading →

Just as they promised, and right on schedule, Family Tree DNA today announced X chromosome matching. They have fully integrated X matching into their autosomal Family Finder product matching. This will be rolling live today. Happy New Year from Family … Continue reading →

  • Number 6 for 2019: Full or Half Siblings – Published in April 2019 – Want to know how to determine the difference between full and half siblings? This is it.

Many people are receiving unexpected sibling matches. Every day on social media, “surprises” are being reported so often that they are no longer surprising – unless of course you’re the people directly involved and then it’s very personal, life-altering and you’re … Continue reading →

Ancestry’s new tool, ThruLines has some good features and a lot of potential, but right now, there are a crop of ‘gators in the swimmin’ hole – just waiting for the unwary. Here’s help to safely navigate the waters and … Continue reading →

One of the most common questions I receive, especially in light of the interest in ethnicity testing, is how much of an ancestor’s DNA someone “should” share. The chart above shows how much of a particular generation of ancestors’ DNA … Continue reading →

In Summary

Taking a look at a summary chart is interesting. From my perspective, I never expected the “Thick Hair, Small Boobs” article to be so popular.

“Which DNA Test is Best?” ranked #2 all time, but not in the 2019 top 10. I wonder if that is a function of the market softening a bit, or of fewer people researching before purchasing.

I was surprised that 5 of the top 10 all-time were not in the top 10 of 2019.

Conversely, I’m equally as surprised that 3 of the older 2019 articles not in the all-time top 10.

I’m very glad these older articles continue to be useful, and I do update them periodically, especially if I notice they are accessed often.

Article All-time Top 10 2019 Top 10
Ethnicity Testing – A Conundrum 10 0
How Much Indian Do I Have in Me? 9 4
4 Kinds of DNA for Genetic Genealogy 8 0
Thick Hair, Small Boobs, Shovel Shaped Teeth, and More 7 9
What is a Haplogroup? 6 0
X Marks the Spot 5 10
Ethnicity Results – True or Not? 4 0
Concepts – Calculating Ethnicity Percentages 3 1
Which DNA Test is Best? 2 0
Proving Native American Ancestry Using DNA 1 2
Migration Pedigree Chart 0 8
X Chromosome Matching at Family Tree DNA 0 7
Full or Half Siblings Published in 2019 6
Ancestry’s ThruLines Dissected: How to Use and Not get Bit by the ‘Gators Published in 2019 5
Ancestral DNA Percentages – How Much of Them is in You? 0 3

What Would You Like to See in 2020?

Given that your questions are often my inspiration, what articles would you like to see in 2020?

Are there topics you’d like to see covered? (Sorry, I don’t know the name of your great-great-grandfather’s goat.)

Burning questions you’d like to have answered? (No, I don’t know why there is air.)

Something you’ve been wishing for? (Except maybe for the 1890 census.)

Leave a comment and let me know. (Seriously😊)

I’m looking forward to a wonderful 2020 and hope you’ll come along!

_____________________________________________________________

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.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

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?

______________________________________________________________

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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