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

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

Triangulation in Action at Family Tree DNA

Recently, I published the article, Hitting a Genealogy Home Run Using Your Double-Sided Two-Faced Chromosomes While Avoiding Imposters. The “Home Run” article explains why you want to use a chromosome browser, what you’re seeing and what it means to you.

This article, and the rest in the “Triangulation in Action” series introduces triangulation at Family Tree DNA, MyHeritage, 23andMe, GedMatch and DNAPainter, explaining how to use triangulation to confirm descent from a common ancestor. You may want to read the introductory article first.

What is Triangulation?

Think of triangulation as a three-legged stool – a triangle. Triangulation requires three things:

  1. At least three (not closely related) people must match
  2. On the same reasonably sized segment of DNA and
  3. Descend from a common ancestor

Triangulation is the foundation of confirming descent from a common ancestor, and thereby assigning a specific segment to that ancestor. Without triangulation, you might just have a match to someone else by chance. You can confirm mathematical triangulation, numbers 1 and 2, above, without knowing the identity of the common ancestor.

Boundaries

Triangulation means that all three, or more, people much match on a common segment. However, what you’re likely to see is that some people don’t match on the entire segment, meaning more or less than others as demonstrated in the following examples.

FTDNA Triangulation boundaries.png

You can see that I match 5 different cousins who I know descend from my father’s side on chromosome 15 above. As always, I’m the background grey and these matches are all being compared against me.

I triangulate with them in different ways, forming multiple triangulation groups that I’ve discussed individually, below.

Triangulation Group 1

FTDNA triangulation 1.png

Group 1 – On the left group of matches, above, I triangulate with the blue, red and orange person on the amount of DNA that is common between all of them, shown in the black box. This is triangulation group 1.

I’ve overlayed additional triangulation groups below, so you can compare the groups.

Triangulation Group 2

FTDNA triangulation 2.png

Group 2 – However, if you look just at the blue and orange triangulated matches bracketed in green, I triangulate on slightly more, extending to the left. This group excludes the red person because their beginning point is not the same, or even close. This is triangulation group 2.

Triangulation Group 3 and 4

FTDNA triang 3.png

Group 3 – At right, we see two large triangulation groups. Triangulation group 3 includes the common portions of blue, red, teal and orange matches.

Group 4 – Triangulation group 4 is the skinny group at far right and includes the common portion of the blue, teal and dark blue matches.

Triangulation Groups 5 and 6

FTDNA triang 5.png

Group 5 – There are also two more triangulation groups. The larger green bracketed group includes only the blue and teal people because their end locations are to the right of the end locations of the red and orange matches. The start location varies as well. This is triangulation group 5.

Group 6 – The smaller green bracketed group includes only the blue and teal person because their start locations are before the dark blue person. This is triangulation group 6.

There’s actually one more triangulation group. Can you spot it?

Triangulation Group 7

FTDNA triang 7.png

Group 7 – The tan group includes the red, teal and orange matches but only the areas where they all overlap. This excludes the top blue match because their start location is different. Triangulation group 7 only extends to the end of the red and orange matches, because those are the same locations, while the teal match extends further to the right. That extension is excluded in this group, of course.

Slight Variations

Matches with only slight start and end differences are probably descended from the same ancestor, but we can’t say that for sure (at this point) so we only include actual mathematically matching segments in a triangulation group.

You can see that triangulation groups often overlap because group members share more or less DNA with each other. Normally we don’t bother to number the groups – we just look at the alignment. I numbered them for illustration purposes.

Shared or In-Common-With Matching

Triangulation is not the same thing as a 3-way shared “in-common-with” match. You may share DNA with those two people, but on entirely different segments from entirely different ancestors. If those other two people match each other, it can be on a segment where you don’t match either of them, and thanks to an ancestor that they share who isn’t in your line at all. Shared matches are a great hint, especially in addition to other information such as Phased Family Matching which we’ll talk about in a minute, but shared matches don’t necessarily mean triangulation has occurred, although it’s a great place to start looking.

I have shared matches where I match one person on my maternal side, one on my paternal side, and they match each other through a completely different ancestor on an entirely different segment. However, we don’t triangulate because we don’t all match each other on the SAME segment of DNA. Yes, it can be confusing.

Just remember, each of your segments, and matches, has its own individual history.

Imputation Can Affect Matching

Over the years the chips on which our DNA is processed at the vendors have changed. Each new generation of chips tests a different number of markers, and sometimes different markers – with the overlaps between the entire suite of chips being less than optimal.

I can verify that most vendors use imputation to level the playing field, and even though two vendors have never verified that fact, I’m relatively certain that they all do. That’s the only way they could match to their own prior “only somewhat compatible” chip versions.

The net-net of this is that you may see some differences in matching segments at different vendors, even when you’re comparing the same people. Imputation generally “fills in the blanks,” but doesn’t create large swatches of non-existent DNA. I wrote about the concept of imputation here.

What I’d like for you to take away from this discussion is to be focused on the big picture – if and how people triangulate which is the function important to genealogy. Not if the start and end segments are exactly the same.

Triangulation Solutions

Each of the major vendors, except Ancestry who does not have a chromosome browser, offers some type of triangulation solution, so let’s look at what each vendor offers. If your Ancestry matches have uploaded to GedMatch, Family Tree DNA or MyHeritage, you can triangulate with them there. Otherwise, you can’t triangulate Ancestry results, so encourage your Ancestry matches to transfer.

You can find step-by-step transfer instructions to and from each vendor, here.

I wrote more specifically about triangulation here and here.

Let’s start by looking at triangulation at Family Tree DNA.

Triangulation at Family Tree DNA

Family Tree DNA has two different tools that can be used separately in different circumstances to determine whether or not your segments triangulate.

Phased Family Matching can be used for triangulation.

The Matrix tool can be utilized for people who aren’t designated through Phased Family Matching as maternal or paternal matches to suggest or eliminate triangulation.

First, go to the Family Finder section of your personal page.

We’ll be working with Matches, the Chromosome Browser, and the Matrix.

FTDNA triangulation page.png

Phased Family Matching

At Family Tree DNA, I’ve tested my cousins:

  • Cheryl, my mother’s first cousin (1C)
  • Charlene, my first cousin once removed (1C1R) on my father’s side
  • David, my second cousin (2C) on my father’s side.

I’ve linked the test results of those cousins to my tree in their proper location, which allows Family Tree DNA to do something called Phased Family Matching.

If you don’t have a tree and don’t link your DNA results and those of your family members, Family Tree DNA can’t perform Phased Family Matching.

I explained phasing in the introductory article.

Testing your parents is wonderful if that’s possible, but parents aren’t always available to test. At Family Tree DNA, you don’t need to have tested your parents in order to have phased matches.

In essence, Family Tree DNA uses the DNA of known cousins, third cousins or closer, to assign matches to maternal or paternal tabs, or sides, also sometimes referred to as buckets. I wrote about Phased Family Matching here and here.

FTDNA triang buckets.png

You can see that of my 4806 matches, 1101 are assigned to my paternal side, 884 to my maternal side and 4 are assigned to both.

FTDNA triang header.pngFTDNA triang Charlene.png

My cousin Charlene is assigned to my paternal side, as shown by the blue icon, because I linked her to the correct position in my tree, as is my cousin, David, below.

FTDNA triang David.png

Conversely, my cousin Cheryl is assigned maternally because I linked her as well.

FTDNA triang Cheryl.png

These specific people are assigned maternally and paternally because I linked them to their proper place in my tree. These matches will allows Family Tree DNA to link other testers to the proper side of my tree too, because they match me and my cousin on the same segments – in essence phasing a large number of my matches for me which facilitates triangulation.

Linking Matches on Your Tree

In order to cause Phased Family Matching, aka, “bucketing” to occur, I linked my own test and that of my known 3rd cousins or closer to their proper places in my tree at Family Tree DNA.

If you don’t create a tree or upload a GEDCOM file and link yourself and your known matches, your matches can’t be assigned to maternal and paternal sides.

FTDNA triang tree.png

By utilizing the matching DNA between you and known close relatives on your maternal and paternal sides, Family Tree DNA assigns other people who match both of you on those same segments to the same side of your tree.

If you select matches from the same side of your tree and they match on the same segments, they triangulate.

Of course, that’s assuming the person doesn’t match you on both sides of your tree.

You can also download your matching segments in a file and sort to see who matches on the same locations, but the parental side designation (bucketing) is not reflected in the segment download file. Bucketing is reflected in the match download file which is a different file.

There are two separate download files, but they can be merged.

Two Download Files

The first file, your match download file, provides information about your matches such as their haplogroups, surnames and contact information, including bucketing assignment, but not the actual matching segment data.

The match file tells you a great deal and is both sortable and searchable. You can search for any surname, for example, or you can sort for everyone in the Paternal or Maternal matching bucket. You can creatively combine parts of this file with the matching segments file in order to quickly flag the people on your paternal side. Knowledge about how to work with spreadsheets is a plus.

FTDNA triang match file

Click to enlarge

This download is available at the bottom of the Family Finder match page.

FTDNA triang match.png

You can download all of your matches, or just those in a filtered view, such as in-common-with or as the result of a surname search.

FTDNA triang download.png

The second file, your matching segments file, is available on the chromosome browser page.

The matching segments file includes the match name along with the matching chromosome segments and number of matching SNPs.

FTDNA triang segment file.png

If you click through to the chromosome browser from your main page, as shown below, with NO MATCHES SELECTED, you will be able to download ALL matching segments.

FTDNA triang browser.png

You’ll see “Download All Segments” in the upper right-hand corner.

FTDNA triang download all seg.png

From that Chromosome Browser page, you will also have the ability to select matches to show on the browser.

FTDNA triang browser select

If you select people on the match page before clicking on the chromosome browser or select matches on the chromosome browser page, then clicking on “Download Segments,” will only download the matching segments of the people that you have currently selected to match against in the browser.

FTDNA triang download seg.png

Combinations of Tools and Filters

  • The chromosome browser tells you if people match you on the same segment.
  • The in-common-with filter on the match page tells you who you match in common with a specific person, but not if those two people match each other.

Of course, if both people are assigned to your same parental side bucket, and they both only match you on one large segment – and it’s the same segment, then you must triangulate.

If they aren’t both assigned to a parental bucket, then you can’t make that determination using parental side designations.

Is there a tool that allows you to compare people against each other at the same time to see if your matches also match each other?

Glad you asked.

Yes, there is.

The Matrix

Let’s say that you want to see if a group of people who you match also match each other.

FTDNA triang matrix.png

Family Tree DNA provides a Matrix tool that allows you to select 10 (or fewer) matches in order to determine if your matches also match each other.

FTDNA triang matrix match.png

I’ve entered Cheryl, Charlene and David. You can see that David and Charlene match each other, and Cheryl doesn’t match either Charlene or David.

Of course, we know that’s accurate because:

  • I already know these people and their relationship to me and each other
  • These three people are already assigned to maternal and paternal sides or buckets, so the matrix is verifying what we already know
  • I know where they match on the same segment on the chromosome browser

FTDNA triang 3 browser.png

Even though they match on the same segment on the chromosome browser, the fact that they are bucketed to different parental sides, and that the matrix shows that Cheryl doesn’t match either Charlene and David, confirms that David and Charlene triangulate with me, while Cheryl is not a member of that triangulation group.

This is exactly why triangulation is important. Looking at the image above, the only thing you know is that they all 3 match you – but with the additional information about bucketing and the matrix, we know that only the two bottom people, Charlene and David triangulate with me. Note that I’ve added the maternal and paternal icons for clarity.

FTDNA triang match group browser.png

However, if I didn’t have this knowledge, or not everyone was bucketed, the Matrix tool would be extremely useful. The matrix tool uses the matching threshold of approximately 7.69 cM.

The matrix doesn’t tell you if these people match each other on the same segment where they match you,

However, there’s a good probability that they do, especially if only one matching segment is involved.

You can check the chromosome browser to see if they both match you on the same segment. It’s possible if they don’t match you on the same segment that they match each other on different segments, and possibly through a different ancestor. You may need to reach out to them to ask if they match each other, and if they have known genealogy if they aren’t bucketed.

By utilizing the Matrix tool, you can isolate people to maternal and paternal sides of your tree.

Other Resources to Identify Common Ancestors

Be sure to check other clues at Family Tree DNA such as:

Shared surnames, shown on your matches page, with common surnames that you share bolded

FTDNA triang surnames.png

Trees, indicated by the blue pedigree icon on the match page.

FTDNA triang pedigree.png

Y and mitochondrial DNA haplogroups and matching. You can view your matches haplogroup and other information by clicking on their profile picture on your matches page.

FTDNA triang profile.png

Advanced Matching can be utilized to see if you match on combined tests, or in common projects.

FTDNA triang advanced match.png

This article discusses the 9 different autosomal tools available at Family Tree DNA.

What About You?

Do you have a tree at Family Tree DNA?

Have you connected your test and any family members to your tree?

Can you test a family member, third cousins or closer, or have them transfer a kit from another vendor?

Here’s how to transfer:

How many people do you have on your paternal and maternal tabs on your Family Finder matches page?

You can paint every single one of the people who are designated as maternal or paternal at DNAPainter to your grandparents on the respective maternal or paternal side. DNAPainter Instructions and Resources will explain how, and why.

Join me soon for similar articles about how to work with triangulation at MyHeritage, 23andMe, GedMatch and DNAPainter.

Most of all – have fun!

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Disclosure

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

Thank you so much.

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

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

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

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

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

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

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

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

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

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

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

Double-Sided – Yes, Really

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

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

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

Chromosome 1 match.png

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

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

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

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

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

Your Three Matches

Let’s say you have three matches.

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

Chromosome 1-4.png

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

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

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

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

Let’s start with a basic question.

Why Would I Want to Use a Chromosome Browser?

Genealogists view matches on chromosome browsers because:

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

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

That’s a genetic genealogy home run!

Home Runs 

There are four bases in a genetic genealogy home run.

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

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

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

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

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

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

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

Here’s the important concept:

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

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

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

Chromosome 1.png

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

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

Parent-Child Matches

Let’s explain this another way.

Chromosome parent.png

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

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

Chromosome parent child.png

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

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

Stay with me!

Inheritance Example

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

Chromosome inheritance.png

In the example above:

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

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

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

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

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

Chromosome actual

Click to enlarge image.

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

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

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

There are two types of phasing.

Parental Phasing

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

Chromosome inheritance actual.png

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

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

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

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

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

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

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

Statistical/Academic Phasing

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

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

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

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

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

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

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

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

Matching

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

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

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

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

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

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

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

The Grey/Opaque Background is Your Chromosome

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

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

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

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

Chromosome 1.png

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

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

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

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

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

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

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

What about those colorful bars?

Chromosome Browser Matching

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

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

Chromosome browser.png

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

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

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

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

The Same Address – Stacked Matches

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

Chromosome browser locations.png

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

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

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

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

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

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

We need to evaluate!

Two Faces – Matching Can be Deceptive!

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

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

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

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

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

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

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

Chromosome inheritance match.png

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

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

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

Chromosome actual overlay

Click to enlarge image

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

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

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

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

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

Chromosome actual maternal.png

Click to enlarge image

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

Triangulation – Think of 3

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

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

Chromosome inheritance triangulation.png

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

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

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

Three Way Matching and Identifying Imposters

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

Chromosome 3 way match.png

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

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

Chromosome paternal.png

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

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

Chromosome maternal paternal.png

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

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

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

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

Chromosome identical by chance.png

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

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

Chromosome maternal paternal IBC.png

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

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

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

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

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

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

Remember Three Things

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

Are you ready to hit your home run?

What’s Next?

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

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

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Native American & Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments

Ethnicity is always a ticklish subject. On one hand we say to be leery of ethnicity estimates, but on the other hand, we all want to know who our ancestors were and where they came from. Many people hope to prove or disprove specific theories or stories about distant ancestors.

Reasons to be cautious about ethnicity estimates include:

  • Within continents, like Europe, it’s very difficult to discern ethnicity at the “country” level because of thousands of years of migration across regions where borders exist today. Ethnicity estimates within Europe can be significantly different than known and proven genealogy.
  • “Countries,” in Europe, political constructs, are the same size as many states in the US – and differentiation between those populations is almost impossible to accurately discern. Think of trying to figure out the difference between the populations of Indiana and Illinois, for example. Yet we want to be able to tell the difference between ancestors that came from France and Germany, for example.

Ethnicity states over Europe

  • All small amounts of ethnicity, even at the continental level, under 2-5%, can be noise and might be incorrect. That’s particularly true of trace amounts, 1% or less. However, that’s not always the case – which is why companies provide those small percentages. When hunting ancestors in the distant past, that small amount of ethnicity may be the only clue we have as to where they reside at detectable levels in our genome.

Noise in this case is defined as:

  • A statistical anomaly
  • A chance combination of your DNA from both parents that matches a reference population
  • Issues with the reference population itself, specifically admixture
  • Perhaps combinations of the above

You can read about the challenges with ethnicity here and here.

On the Other Hand

Having restated the appropriate caveats, on the other hand, we can utilize legitimate segments of our DNA to identify where our ancestors came from – at the continental level.

I’m actually specifically referring to Native American admixture which is the example I’ll be using, but this process applies equally as well to other minority or continental level admixture as well. Minority, in this sense means minority ethnicity to you.

Native American ethnicity shows distinctly differently from African and European. Sometimes some segments of DNA that we inherit from Native American ancestors are reported as Asian, specifically Siberian, Northern or Eastern Asian.

Remember that the Native American people arrived as a small group via Beringia, a now flooded land bridge that once connected Siberia with Alaska.

beringia map

By Erika Tamm et al – Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, et al. (2007) Beringian Standstill and Spread of Native American Founders. PLoS ONE 2(9): e829. doi:10.1371/journal.pone.0000829. Also available from PubMed Central., CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=16975303

After that time, the Native American/First Nations peoples were isolated from Asia, for the most part, and entirely from Europe until European exploration resulted in the beginning of sustained European settlement, and admixture beginning in the late 1400s and 1500s in the Americas.

Family Inheritance

Testing multiple family members is extremely useful when working with your own personal minority heritage. This approach assumes that you’d like to identify your matches that share that genetic heritage because they share the same minority DNA that you do. Of course, that means you two share the same ancestor at some time in the past. Their genealogy, or your combined information, may hold the clue to identifying your ancestor.

In my family, my daughter has Native American segments that she inherited from me that I inherited from my mother.

Finding the same segment identified as Native American in several successive generations eliminates the possibility that the chance combination of DNA from your father and mother is “appearing” as Native, when it isn’t.

We can use segment information to our benefit, especially if we don’t know exactly who contributed that DNA – meaning which ancestor.

We need to find a way to utilize those Native or other minority segments genealogically.

23andMe

Today, the only DNA testing vendor that provides consumers with a segment identification of our ethnicity predictions is 23andMe.

If you have tested at 23andMe, sign in and click on Ancestry on the top tab, then select Ancestry Composition.

Minority ethnicity ancestry composition.png

Scroll down until you see your painted chromosomes.

Minority ethnicity chromosome painting.png

By clicking on the region at left that you want to see, the rest of the regions are greyed out and only that region is displayed on your chromosomes, at right.

Minority ethnicity Native.png

According to 23andMe, I have two Native segments, one each on chromosomes 1 and 2. They show these segments on opposite chromosomes, meaning one (the top for example) would be maternal or paternal, and the bottom one would be the opposite. But 23andMe apparently could not tell for sure because neither my mother nor father have tested there. This placement also turned out to be incorrect. The above image was my initial V3 test at 23andMe. My later V4 results were different.

Versions May Differ

Please note that your ethnicity predictions may be different based on which test you took which is dictated by when you took the test. The image above is my V3 test that was in use at 23andMe between 2010 and November 2013, and the image below is my V4 test in use between November 2013 and August 2017.

23andMe apparently does not correct original errors involving what is known as “strand swap” where the maternal and paternal segments are inverted during analysis. My V4 test results are shown below, where the strands are correctly portrayed.

Minority ethnicity Native V4.png

Note that both Native segments are now on the lower chromosome “side” of the pair and the position on the chromosome 1 segment has shifted visually.

Minority ethnicity sides.png

I have not tested at 23andMe on the current V5 GSA chip, in use since August 9, 2017, but perhaps I should. The results might be different yet, with the concept being that each version offers an improvement over earlier versions as science advances.

If your parents have tested, 23andMe makes adjustments to your ethnicity estimates accordingly.

Although my mother can’t test at 23andMe, I happen to already know that these Native segments descend from my mother based on genealogical and genetic analysis, combined. I’m going to walk you through the process.

I can utilize my genealogy to confirm or refute information shown by 23andMe. For example, if one of those segments comes from known ancestors who were living in Germany, it’s clearly not Native, and it’s noise of some type.

We’re going to utilize DNAPainter to determine which ancestors contributed your minority segments, but first you’ll need to download your ethnicity segments from 23andMe.

Downloading Ethnicity Segment Data

Downloading your ethnicity segments is NOT THE SAME as downloading your raw DNA results to transfer to another vendor. Those are two entirely different files and different procedures.

To download the locations of your ethnicity segments at 23andMe, scroll down below your painted ethnicity segments in your Ancestry Composition section to “View Scientific Details.”

MInority ethnicity scientific details.png

Click on View Scientific Details and scroll down to near the bottom and then click on “Download Raw Data.” I leave mine at the 50% confidence level.

Minority ethnicity download raw data.png

Save this spreadsheet to your computer in a known location.

In the spreadsheet, you’ll see columns that provide the name of the segment, the chromosome copy number (1 or 2) and the chromosome number with start and end locations.

Minority ethnicity download.png

You really don’t care about this information directly, but DNAPainter does and you’ll care a lot about what DNAPainter does for you.

DNAPainter

I wrote introductory articles about DNAPainter:

If you’re not familiar with DNAPainter, you might want to read these articles first and then come back to this point in this article.

Go ahead – I’ll wait!

Getting Started

If you don’t have a DNAPainter account, you’ll need to create one for free. Some features, such as having multiple profiles are subscription based, but the functionality you’ll need for one profile is free.

I’ve named this example profile “Ethnicity Demo.” You’ll see your name where mine says “Ethnicity Demo.”

Minority ethnicity DNAPainter.png

Click on “Import 23andme ancestry composition.”

You will copy and paste all the spreadsheet rows in the entire downloaded 23andMe ethnicity spreadsheet into the DNAPainter text box and make your selection, below. The great news is that if you discover that your assumption about copy 1 being maternal or paternal is incorrect, it’s easy to delete the ethnicity segments entirely and simply repaint later. Ditto if 23andMe changes your estimate over time, like they have mine.

Minority ethnicity DNAPainter sides.png

I happen to know that “copy 2” is maternal, so I’ve made that selection.

You can then see your ethnicity chromosome segments painted, and you can expand each one to see the detail. Click on “Save Segments.”

MInority ethnicity DNAPainter Native painting

Click to enlarge

In this example, you can see my Native segments, called by various names at different confidence levels at 23andMe, on chromosome 1.

Depending on the confidence level, these segments are called some mixture of:

  • East Asian & Native American
  • North Asian & Native American
  • Native American
  • Broadly East Asian & Native American

It’s exactly the same segment, so you don’t really care what it’s called. DNAPainter paints all of the different descriptions provided by 23andMe, at all confidence levels as you can see above.

The DNAPainter colors are different from 23andMe colors and are system-selected. You can’t assign the colors for ethnicity segments.

Now, I’m moving to my own profile that I paint with my ancestral segments. To date, I have 78% of my segments painted by identifying cousins with known common ancestors.

On chromosomes 1 and 2, copy 2, which I’ve determined to be my mother’s “side,” these segments track back to specific ancestors.

Minority ethnicity maternal side

Click to enlarge

Chromosome 1 segments, above, track back to the Lore family, descended from Antoine (Anthony) Lore (Lord) who married Rachel Hill. Antoine Lore was Acadian.

Minority ethnicity chromosome 1.png

Clicking on the green segment bar shows me the ancestors I assigned when I painted the match with my Lore family member whose name is blurred, but whose birth surname was Lore.

The Chromosome 2 segment, below, tracks back to the same family through a match to Fred.

Minority ethnicity chromosome 2.png

My common ancestors with Fred are Honore Lore and Marie Lafaille who are the parents of Antoine Lore.

Minority ethnicity common ancestor.png

There are additional matches on both chromosomes who also match on portions of the Native segments.

Now that I have a pointer in the ancestral direction that these Native American segments arrived from, what can traditional genealogy and other DNA information tell me?

Traditional Genealogy Research

The Acadian people were a mixture of English, French and Native American. The Acadians settled on the island of Nova Scotia in 1609 and lived there until being driven out by the English in 1755, roughly 6 or 7 generations later.

Minority ethnicity Acadian map.png

The Acadians intermarried with the Mi’kmaq people.

It had been reported by two very qualified genealogists that Philippe Mius, born in 1660, married two Native American women from the Mi’kmaq tribe given the name Marie.

The French were fond of giving the first name of Marie to Native women when they were baptized in the Catholic faith which was required before the French men were allowed to marry the Native women. There were many Native women named Marie who married European men.

Minority ethnicity Native mitochondrial tree

Click to enlarge

This Mius lineage is ancestral to Antoine Lore (Lord) as shown on my pedigree, above.

Mitochondrial DNA has revealed that descendants from one of Philippe Mius’s wives, Marie, carry haplogroup A2f1a.

However, mitochondrial tests of other descendants of “Marie,” his first wife, carry haplogroup X2a2, also Native American.

Confusion has historically existed over which Marie is the mother of my ancestor, Francoise.

Karen Theroit Reader, another professional genealogist, shows Francoise Mius as the last child born to the first Native wife before her death sometime after 1684 and before about 1687 when Philippe remarried.

However, relative to the source of Native American segments, whether Francoise descends from the first or second wife doesn’t matter in this instance because both are Native and are proven so by their mitochondrial DNA haplogroups.

Additionally, on Antoine’s mother’s side, we find a Doucet male, although there are two genetic male Doucet lines, one of European origin, haplogroup R-L21, and one, surprisingly, of Native origin, haplogroup C-P39. Both are proven by their respective haplogroups but confusion exists genealogically over who descends from which lineage.

On Antoine’s mother’s side, there are several unidentified lineages, any one or multiples of which could also be Native. As you can see, there are large gaps in my tree.

We do know that these Native segments arrived through Antoine Lore and his parents, Honore Lore and Marie LaFaille. We don’t know exactly who upstream contributed these segments – at least not yet. Painting additional matches attributable to specific ancestral couples will eventually narrow the candidates and allow me to walk these segments back in time to their rightful contributor.

Segments, Traditional Research and DNAPainter

These three tools together, when using continent-level segments in combination with painting the DNA segments of known cousins that match specific lineages create a triangulated ethnicity segment.

When that segment just happens to be genealogically important, this combination can point the researchers in the right direction knowing which lines to search for that minority ancestor.

If your cousins who match you on this segment have also tested with 23andMe, they should also be identified as Native on this same segment. This process does not apply to intracontinental segments, meaning within Europe, because the admixture is too great and the ethnicity predictions are much less reliable.

When identifying minority admixture at the continental level, adding Y and mitochondrial DNA testing to the mix in order to positively identify each individual ancestor’s Y and mitochondrial DNA is very important in both eliminating and confirming what autosomal DNA and genealogy records alone can’t do. The base haplogroup as assigned at 23andMe is a good start, but it’s not enough alone. Plus, we only carry one line of mitochondrial DNA and only males carry Y DNA, and only their direct paternal line.

We need Y and mitochondrial DNA matching at FamilyTreeDNA to verify the specific lineage. Additionally, we very well may need the Y and mitochondrial DNA information that we don’t directly carry – but other cousins do. You can read about Y and mitochondrial DNA testing, here.

I wrote about creating a personal DNA pedigree chart including your ancestors’ Y and mitochondrial DNA here. In order to find people descended from a specific ancestor who have DNA tested, I utilize:

  • WikiTree resources and trees
  • Geni trees
  • FamilySearch trees
  • FamilyTreeDNA autosomal matches with trees
  • AncestryDNA autosomal matches and their associated trees
  • Ancestry trees in general, meaning without knowing if they are related to a DNA match
  • MyHeritage autosomal matches and their trees
  • MyHeritage trees in general

At both MyHeritage and Ancestry, you can view the trees of your matches, but you can also search for ancestors in other people’s trees to see who might descend appropriately to provide a Y or mitochondrial DNA sample. You will probably need a subscription to maximize these efforts. My Heritage offers a free trial subscription here.

If you find people appropriately descended through WikiTree, Geni or FamilySearch, you’ll need to discuss DNA testing with them. They may have already tested someplace.

If you find people who have DNA tested through your DNA matches with trees at Ancestry and MyHeritage, you’ll need to offer a Y or mitochondrial DNA test to them if they haven’t already tested at FamilyTreeDNA.

FamilyTreeDNA is the only vendor who provides the Y DNA and mitochondrial DNA tests at the higher resolution level, beyond base haplogroups, required for matching and for a complete haplogroup designation.

If the person has taken the Family Finder autosomal test at FamilyTreeDNA, they may have already tested their Y DNA and mtDNA, or you can offer to upgrade their test.

Projects

Checking projects at FamilyTreeDNA can be particularly useful when trying to discover if anyone from a specific lineage has already tested. There are many, special interest projects such as the Acadian AmerIndian Ancestry project, the American Indian project, haplogroup projects, surname projects and more.

You can view projects alphabetically here or you can click here to scroll down to enter the surname or topic you are seeking.

Minority ethnicity project search.png

If the topic isn’t listed, check the alphabetic index under Geographical Projects.

23andMe Maternal and Paternal Sides

If possible, you’ll want to determine which “side” of your family your minority segments originate come from, unless they come from both. you’ll want to determine whether chromosome side one 1 or 2 is maternal, because the other one will be paternal.

23andMe doesn’t offer tree functionality in the same way as other vendors, so you won’t be able to identify people there descended from your ancestors without contacting each person or doing other sleuthing.

Recently, 23andMe added a link to FamilySearch that creates a list of your ancestors from their mega-shared tree for 7 generations, but there is no tree matching or search functionality. You can read about the FamilySearch connection functionality here.

So, how do you figure out which “side” is which?

Minority ethnicity minority segment.png

The chart above represents the portion of your chromosomes that contains your minority ancestry. Initially, you don’t know if the minority segment is your mother’s pink chromosome or your father’s blue chromosome. You have one chromosome from each parent with the exact same addresses or locations, so it’s impossible to tell which side is which without additional information. Either the pink or the blue segment is minority, but how can you tell?

In my case, the family oral history regarding Native American ancestry was from my father’s line, but the actual Native segments wound up being from my mother, not my father. Had I made an assumption, it would have been incorrect.

Fortunately, in our example, you have both a maternal and paternal aunt who have tested at 23andMe. You match both aunts on that exact same segment location – one from your father’s side, blue, and one from your mother’s side, pink.

You compare your match with your maternal aunt and verify that indeed, you do match her on that segment.

You’ll want to determine if 23andMe has flagged that segment as Native American for your maternal aunt too.

You can view your aunt’s Ancestry Composition by selecting your aunt from the “Your Connections” dropdown list above your own ethnicity chromosome painting.

Minority ethnicity relative connections.png

You can see on your aunt’s chromosomes that indeed, those locations on her chromosomes are Native as well.

Minority ethnicity relative minority segments.png

Now you’ve identified your minority segment as originating on your maternal side.

Minority ethnicity Native side.png

Let’s say you have another match, Match 1, on that same segment. You can easily tell which “side” Match 1 is from. Since you know that you match your maternal aunt on that minority segment, if Match 1 matches both you and your maternal aunt, then you know that’s the side the match is from – AND that person also shares that minority segment.

You can also view that person’s Ancestry Composition as well, but shared matching is more reliable,especially when dealing with small amounts of minority admixture.

Another person, Match 2, matches you on that same segment, but this time, the person matches you and your paternal aunt, so they don’t share your minority segment.

Minority ethnicity match side.png

Even if your paternal aunt had not tested, because Match 2 does not match you AND your maternal aunt, you know Match 2 doesn’t share your minority segment which you can confirm by checking their Ancestry Composition.

Download All of Your Matches

Rather than go through your matches one by one, it’s easiest to download your entire match list so you can see which people match you on those chromosome locations.

Minority ethnicity download aggregate data.png

You can click on “Download Aggregate Data” at 23andMe, at the bottom of your DNA Relatives match list to obtain all of your matches who are sharing with you. 23andMe limits your matches to 2000 or less, the actual number being your highest 2000 matches minus the people who aren’t sharing. I have 1465 matches showing and that number decreases regularly as new testers at 23andMe are focused on health and not genealogy, meaning lower matches get pushed off the list of 2000 match candidates.

You can quickly sort the spreadsheet to see who matches you on specific segments. Then, you can check each match in the system to see if that person matches you and another known relative on the minority segments or you can check their Ancestry Composition, or both.

If they share your minority segment, then you can check their tree link if they have one, included in the download, their Family Search information if included on their account, or reach out to them to see if you might share a known ancestor.

The key to making your ethnicity segment work for you is to identify ancestors and paint known matches.

Paint Those Matches

When searching for matches whose DNA you can attribute to specific ancestors, be sure to check at all 4 places that provide segment information that you can paint:

At GedMatch, you’ll find some people who have tested at the other various vendors, including Ancestry, but unfortunately not everyone uploads. Ancestry doesn’t provide segment information, so you won’t be able to paint those matches directly from Ancestry.

If your Ancestry matches transfer to GedMatch, FamilyTreeDNA or MyHeritage you can view your match and paint your common segments. At GedMatch, Ancestry kit numbers begin with an A. I use my Ancestry kit matches at GedMatch to attempt to figure out who that match is at Ancestry in order to attempt to figure out the common ancestor.

To Paint, You Must Test

Of course, in order to paint your matches that you find in various databases, you need to be in those data bases, meaning you either need to test there or transfer your DNA file.

Transfers

If you’d like to test your DNA at one vendor and download the file to transfer to another vendor, or GedMatch, that’s possible with both FamilyTreeDNA and MyHeritage who both accept uploads.

You can transfer kits from Ancestry and 23andMe to both FamilyTreeDNA and MyHeritage for free, although the chromosome browsers, advanced tools and ethnicity require an unlock fee (or alternatively a subscription at MyHeritage). Still, the free transfer and unlock for $19 at FamilyTreeDNA or $29 at MyHeritage is less than the cost of testing.

Here’s a quick cheat sheet.

DNA vendor transfer cheat sheet 2019

From time to time, as vendor file formats change, the ability to transfer is temporarily interrupted, but it costs nothing to try a transfer to either MyHeritage or FamilyTreeDNA, or better yet, both.

In each of these articles, I wrote about how to download your data from a specific vendor and how to upload from other vendors if they accept uploads.

Summary Steps

In order to use your minority ethnicity segments in your genealogy, you need to:

  1. Test at 23andMe
  2. Identify which parental side your minority ethnicity segments are from, if possible
  3. Download your ethnicity segments
  4. Establish a DNAPainter account
  5. Upload your ethnicity segments to DNAPainter
  6. Paint matches of people with whom you share known common ancestors utilizing segment information from 23andMe, FamilyTreeDNA, MyHeritage and AncestryDNA matches who have uploaded to GedMatch
  7. If you have not tested at either MyHeritage or FamilyTreeDNA, upload your 23andMe file to either vendor for matching, along with GedMatch
  8. Focus on those minority segments to determine which ancestral line they descend through in order to identify the ancestor(s) who provided your minority admixture.

Have fun!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

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

First steps helix

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

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

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

A Guide

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

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

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

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

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

OK, let’s get started. Fun awaits!

The Goal

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

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

DNAAdoption for Everyone

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

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

Ok, now let’s look at your results.

Matches are the Key

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

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

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

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

Informational Tools

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

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

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

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

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

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

Family Tree DNA

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

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

First Steps Family Tree DNA matches.png

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

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

First Steps Family Tree DNA bucketing

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

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

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

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

How does bucketing work?

Maternal or Paternal “Side” Assignment, aka Bucketing

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

First Steps Family Tree DNA match info

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

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

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

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

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

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

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

First Steps Family Tree DNA tree.png

The Chromosome Browser

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

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

Here’s a matching example utilizing a chromosome browser.

First Steps Family Tree DNA chromosome browser.png

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

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

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

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

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

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

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

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

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

In Common With

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

First Steps Family Tree DNA in common with

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

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

First Steps 7 match chromosome browser

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

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

Size Matters

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

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

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

Using “In Common With” and the Matrix

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

First Steps match matrix.png

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

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

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

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

First steps matrix link

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

First Steps Family Tree DNA matrix.png

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

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

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

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

MyHeritage

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

First Steps MyHeritage matches

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

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

First Steps MyHeritage triangulation

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I’ve selected 2 matches to illustrate.

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

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

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

Triangulation

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

First Steps MyHeritage triangulation chromosome browser.png

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

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

First Steps MyHeritage common ancestor.png

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

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

First Steps Hiram Ferverda pedigree.png

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

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

Viva triangulation!

Theory of Family Relativity

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

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

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

MyHeritage theory update

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

First Steps MyHeritage theory of relativity

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The theory is displayed in summary format first.

MyHeritage view full theory

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

MyHeritage review match

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

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

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

I love this tool and find the Theories mostly accurate.

AncestryDNA

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

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

You’ll see the following match list.

First Steps Ancestry matches

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

First Steps Ancestry shared matches

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

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

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

First Steps Ancestry shared matches with cousin

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

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

First Steps Ancestry view ThruLines.png

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

Stitched Trees

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

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

First Steps Ancestry ThruLines tree

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

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

23andMe

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

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

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

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

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

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

First Steps 23andMe DNA Relatives.png

Your matches at 23andMe are found under DNA Relatives.

First Steps 23andMe tools

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

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

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

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

First Steps 23andMe country.png

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

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

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

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

First Steps 23andMe view DNA Comparison.png

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

First STeps 23andMe chromosome browser.png

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

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

23andMe and Ancestry Maps Show Where Your Matches Live

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

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

First Steps 23andMe map

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

First Steps 23andMe your location on map.png

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

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

First Steps 23andMe questions.png

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

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

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

Ancestry Map Shows Where Your Matches Live

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

First Steps Ancestry map link.png

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

First Steps Ancestry match map.png

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

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

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

First Steps Ancestry profile.png

Under your profile, click “Edit.”

First Steps Ancestry edit profile.png

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

First Steps Ancestry location in profile.png

Sometimes Your Answer is a Little More Complicated

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

What issues might be more complex?

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

Getting Started

What do you need to get started?

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

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

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

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

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

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

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

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

Evaluate critically and skeptically.

Ok, Let’s Go!

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

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

What can you discover today?

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Disclosure

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

Thank you so much.

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MyHeritage LIVE Conference Day 2 – The Science Behind DNA Matching    

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

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

Here are some stats:

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

I was blown away by the number of livestream attendees.

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

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

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

Improved DNA Matching

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

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

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

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

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

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

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

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

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

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

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

At right, fewer and larger segments through the father.

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

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

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

Here’s a quick example.

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

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

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

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

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

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

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

Dr. Weissglas-Volkev then moved on to imputation.

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

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

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

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

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

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

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

So, how are matches determined?

Matching

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

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

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

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

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

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

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

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

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

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

Matching Versus Triangulation Thresholds

Confusion exists about matching thresholds versus triangulation thresholds.

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

I took a look at my lowest match at MyHeritage.

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

Triangulation Threshold

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

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

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

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

Closing Session

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

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

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

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

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

  • Australia
  • New Zealand
  • Israel
  • Germany
  • Switzerland

What do you think?

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

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

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

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

This is the first of a series of two articles.

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

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

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

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

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

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

Family Stories and DNA

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

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

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

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

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

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

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

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

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

Enter DNA Testing

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

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

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

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

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

Unexpected Results

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

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

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

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

50-50 Chance

Everyone receives half of their autosomal DNA from each parent.

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

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

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

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

Why Call Ethnicity an Estimate?

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

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

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

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

Parental Phasing – Identical by Descent

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

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

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

This is known as Identical by Chance (IBC).

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

Elizabeth Warren’s Genealogy

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

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

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

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

Elizabeth Warren’s DNA Results

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

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

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

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

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

From that paper:

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

And:

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

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

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

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

Elizabeth’s request, from the report:

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

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

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

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

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

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

Dr. Bustamante’s Conclusion:

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

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

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

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

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

Here’s our example again.

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

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

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

Questions and Answers

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

Question – Can these results prove that Elizabeth is Cherokee?

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

Q – Are these results absolutely positive?

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

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

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

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

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

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

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

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

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

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

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

Q – Does this qualify Elizabeth to join a tribe?

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

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

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

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

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

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

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

Roberta’s Summary of the Analysis

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

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

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

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

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

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

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

DNA Painter – Touring the Chromosome Garden

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

The first two articles are:

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

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

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

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

Automatic Triangulation

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

The definition of triangulation in this context means:

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

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

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

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

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

What does triangulation look like in DNA Painter?

Here’s what my painted chromosome 15 looks like.

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

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

Ok, so what’s a pileup area?

Pileup Areas

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

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

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

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

Please note that you can click to enlarge any image.

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

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

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

Stacked Segments

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

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

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

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

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

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

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

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

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

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

Double Related

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

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

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

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

Painted Ethnicity

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

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

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

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

Confirming Questionable Ancestors

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

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

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

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

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

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

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

Finally, the thirty year old mystery is solved!

Shifting, Sliding, Offset or Staggered Segment Groups

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

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

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

Two Matches – 7 Generations

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

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

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

First Chromosome Fully Mapped

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

Uh Oh – Something’s Wrong

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

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

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

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

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

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

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

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

I need more matches on this segment for further clarity.

Visual Phasing – Crossovers

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

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

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

The gold lines above are matches from more recent generations.

Naming Those Unnamed Acadians

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

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

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

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

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

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

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

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

Acadian Endogamy Haystack on Steroids

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

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

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

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

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

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

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

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

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

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

The X Chromsome

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

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

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

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

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

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

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

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

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

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

Adoptees

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

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

Painting can speed this process significantly.

Much More Than Painting

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

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

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

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

Have fun!!! Don’t forget to eat!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Who Tests the X Chromosome?

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

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

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

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

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

X CentiMorgan Counts

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

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

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

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

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

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

X Matches

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

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

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

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

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

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

Sorting by X

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

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

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

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

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

Family Tree DNA X Match Phasing

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

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

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

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

Have fun!!!

______________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research