Category Archives: Haplogroups

Concepts: Inheritance

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Inheritance.

What is it?

How does it work?

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

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

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

Types of DNA

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

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

Different Inheritance Paths

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

Inheritance Paths

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

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

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

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

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

Autosomal DNA

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

How does autosomal DNA work?

22 autosomes

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

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

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

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

Autosomal Inheritance

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

Inheritance son daughter

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

Inheritance son daughter difference

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

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

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

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

I wrote about a 4 Generation Inheritance Study, here.

Perspective

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

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

Inheritance parental autosomal

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

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

Let’s look at an illustration.

Inheritance mom dad

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

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

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

Inheritance mom dad segments

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

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

Inheritance mom dad both segments

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

Inheritance grandparents dna

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

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

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

Inheritance match 1 2

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

Inheritance 4 gen

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

Your Parents Will Have More Matches Than You Do

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

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

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

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

X Chromosome

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

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

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

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

inheritance x fan

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

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

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

The X Chromsome in Action

Here’s an X example of how inheritance works.

Inheritance X

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

Inheritance X daughter

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

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

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

Inheritance x y

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

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

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

Autosomal Education

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

When to Purchase Autosomal DNA Tests

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

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

Y DNA

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

Inheritance y mtdna

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

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

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

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

67 and 111 Marker Panel Customers Receive:

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

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

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

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

Y DNA Education

I wrote several articles about understanding and using Y DNA:

When to Purchase Y DNA Tests

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

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

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

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

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

Mitochondrial DNA

Inheritance mito

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

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

Mitochondrial DNA testers at FamilyTreeDNA receive:

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

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

Mitochondrial DNA Education

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

When to Purchase Mitochondrial DNA Tests

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

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

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

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

Combined Resources for Genealogists

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

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

Hearts represent mitochondrial DNA, and stars, Y DNA.

Inheritance combined

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Increase Your Odds

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

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

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

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

Order

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

Autosomal:

Transfers

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

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

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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

RootsTech 2020: It’s a Wrap

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Before sharing photos and details about the last three days at RootsTech, I want to provide some general observations.

I expected the attendance to be down this year because of the concern about the Novel Corona Virus. There was a lot of hand-washing and sanitizer, but no hand-wringing.

I don’t think attendance was lagging at all. In fact, this show was larger, based on how my feet feel and general crowd observation than ever before. People appeared to be more engaged too.

According to RootsTech personnel, 4 major vendors pulled out the week before the show opened; 23andMe, LivingDNA, FindMyPast and a book vendor.

I doubt there’s much of a refund policy, so surely something happened in these cases. If you recall, LivingDNA and FindMyPast have a business relationship. 23andMe just laid off a number of people, but then again, so did Ancestry but you’d never know it based on the size of their booth and staffing here.

Family Search has really stepped up their game to modernize, capture stories, scan books and otherwise make genealogy interesting and attractive to everyone.

We got spoiled last year with the big DNA announcements at RootsTech, but nothing of that magnitude was announced this year. That’s not to say there weren’t vendor announcements, there were.

FamilyTreeDNA announced:

  • Their myOrigins Version 3.0 which is significantly updated by adding several worldwide populations, increasing the number from 24 to 90. I wrote about these features here.
  • Adding a myOrigins chromosome browser painted view. I am SOOO excited about this because it makes ethnicity actually useful for genealogy because we can compare specific ethnicity segments with genealogical matches. I can hardly wait.

RootsTech 2020 Sunny Paul

Sunny Morton with Family Tree Magazine interviewing Dr. Paul Maier, FamilyTreeDNA’s population geneticist. You can see the painted chromosome view on the screen behind Dr. Maier.

  • Providing, after initial release, a downloadable ethnicity estimate segment file.
  • Sponsorship of The Million Mito Project, a joint collaborative citizen science project to rewrite the mitochondrial tree of womankind includes team members Dr. Miguel Vilar, Lead Scientist of the National Geographic Genographic Project, Dr. Paul Maier, Population Geneticist at FamilyTreeDNA, Goran Runfeldt, Head of Research and Development at FamilyTreeDNA, and me, DNAeXplain, scientist, genetic genealogist, National Geographic Genographic Affiliate Researcher.

RootsTech 2020 Million Mito

I was honored to make The Million Mito Project announcement Saturday morning, but it was hard for me to contain my enthusiasm until Saturday. This initiative is super-exciting and I’ll be writing about the project, and how you can participate, as soon as I get home and recover just a bit.

  • Michael Sager, aka Mr. Big Y, announced additions to the Y Tree of Mankind in the Demo Theater, including a particularly impressive haplogroup D split.

Rootstech 2020 Sager

RootsTech 2020 Sager 2

RootsTech 2020 Sager hap d

In case anyone is counting, as of last week, the Y tree has 26,600+ named branches and over half a million detected (private variant) SNPs at FamilyTreeDNA waiting for additional testers to be placed on the tree. All I can say is WOW!!! In 2010, a decade ago, there were only 441 Y DNA branches on the entire Y tree. The Y tree has shot up from a twig to an evergreen. I think it’s actually a Sequoia and we just don’t know how large it’s going to grow to be.

RootsTech 2020 FTDNA booth

FamilyTreeDNA stepped up their game with a way-cool new booth that incorporated a lovely presentation area, greatly improved, which featured several guest presenters throughout the conference, including Judy Russell, below.

RootsTech 2020 Judy Russell

Yes, in case anyone is wondering, I DID ask permission to take Judy’s picture, AND to publish it in my article. Just sayin’😊

MyHeritage announced their new photo colorization, MyHeritage in Color, just before RootsTech. I wrote about it, here. At RootsTech MyHeritage had more announcements, including:

  • Enhancements coming soon to the photo colorization program. It was interesting to learn that the colorization project went live in less than 2 months from inception and resulted from an internal “hack-a-thon,” which in the technology industry is a fun think-tank sort of marathon endeavor where ideas flow freely in a competitive environment. Today, over a million photos have been colorized. People LOVE this feature.

RootsTech 2020 MyHeritage booth

One of their booth giveaways was a magnet – of your colorized ancestor’s photo. Conference attendees emailed the photo to a special email address and came by the booth a few minutes later to retrieve their photo magnet.

The photos on the board in front, above, are the colorized photos waiting for their family to pick them up. How fun!!!

  • Fan View for family trees which isn’t just a chart, but dynamic in that you can click on any person and they become the “center.” You can also add to your tree from this view.

RootsTech 2020 MyHeritage fan tree

One of the views is a colorful fan. If you sign on to your MyHeritage account, you’ll be asked if you’d like to see the new fan view. You can read about the new tree features on their blog, here.

  • The release of a MASSIVE 100-year US city directory digitization project that’s more than just imaging and indexing. If you’ve every used city directories, the unique abbreviations in each one will drive you batty. MyHeritage has solved that problem by providing the images, plus the “translation.” They’ve also used artificial intelligence to understand how to search further, incorporating things like spouse, address and more to provide you with not just one year or directory, but linear information that might allow you to infer the death of a spouse, for example. You can read their blog article, here.

RootsTech 2020 MyHeritage city directories

The MyHeritage booth incorporated a very cool feature this year about the Mayflower. Truthfully, I was quite surprised, because the Mayflower is a US thing. MyHeritage is working with folks in Leiden, Netherlands, where some Mayflower family members remained while others continued to what would become Plymouth Colony to prove the connection.

Rootstech 2020 MyHeritage Mayflower virtual

MyHeritage constructed a 3D area where you can sail with the Pilgrims.

I didn’t realize at first, but the chair swivels and as you move, your view in the 3D “goggles” changes to the direction on board the ship where you are looking.

RootsTech 2020 MyHeritage Mayflower virtual 2

The voyage in 1620 was utterly miserable – very rough with a great deal of illness. They did a good job of portraying that, but not “too much” if you get my drift. What you do feel is the utter smallness of the ship in the immense angry ocean.

I wonder how many descendants “sailed with their ancestors” on the virtual Mayflower. Do you have Mayflower ancestors? Mine are William Brewster, his wife, Mary and daughter, Patience along with Stephen Hopkins and his son, Gyles.

Ancestry’s only announcements were:

  • That they are “making things better” by listening and implementing improvements in the DNA area. I’ll forego any commentary because it would be based on their failure to listen and act (for years) about the absence of segment information and a chromosome browser. You’ve guessed it, that’s not mentioned.
  • That the WWII young man Draft Registration cards are now complete and online. Truthfully, I had no idea that the collection I was using online wasn’t complete, which I actually find very upsetting. Ancestry, assuming you actually are listening, how about warning people when they are using a partially complete collection, meaning what portion is and is not complete.
  • Listing content record additions planned for 2020 including the NYC birth index and other state and international records, some of which promise to be very useful. I wonder which states the statewide digitization projects pertain to and what that means, exactly.

OK, now we’re done with vendor announcements, so let’s just take a walk around the expo hall and see who and what we find. We might run into some people you know!

Walking Around

I sandwiched my walking around in-between my sessions. Not only did I present two RootsTech classes, but hosted the ToolMaker Meetup, attended two dinners, two lunches, announced The Million Mito Project, did two booth talks, one for FamilyTreeDNA and one for WikiTree, and I think something else I’ve forgotten about. Plus, all the planned and chance meetings which were absolutely wonderful.

Oh yes, and I attended a couple of sessions myself as an attendee and a few in the vendors booths too.

The great thing, or at least I think its great, is that most of the major vendors also have booth educational learning opportunities with presentation areas at their booths. Unfortunately, there is no centralized area where you can find out which booths have sessions, on what topics, when. Ditto for the Demo Theater.

Of course, that means booth presentations are also competing for your time with the regular sessions – so sometimes it’s really difficult to decide. It’s sort of like you’re awash in education for 4 days and you just can’t absorb enough. By Saturday, you’re physically and emotionally exhausted and you can’t absorb another iota, nor can you walk another step. But then you see someone you know and the pain in your feet is momentarily forgotten.

Please note that there were lots of other people that I saw and we literally passed, hugged and waved, or we were so engrossed in conversation that I didn’t realize until later that I had failed to take the photo. So apologies to all of those people.

RootsTech 2020 Amy Mags

I gave a presentation in the WikiTree booth about how to incorporate WikiTree into your 52 Ancestor stories, both as a research tool and as a way to bait the hook for cousins. Not to mention seeing if someone has already tested for Y or mtDNA, or candidates to do so.

That’s Amy Johnson Crow who started the 52 Ancestors challenge years ago, on the left and Mags Gaulden who writes at Grandma’s Genes and is a WikiTree volunteer (not to mention MitoY DNA.) Amy couldn’t stay for the presentation, so of course, I picked on her in her absence! I suspect her ears were burning. All in a good way of course.

RootsTech 2020 Kevin Borland

Kevin Borland of Borland Genetics, swabbing at the Family Tree DNA  booth, I hope for The Million Mito Project.

RootsTech 2020 Daniel Horowitz

Daniel Horowitz with MyHeritage at the blogger dinner. How about that advertising on his laptop lid. I need to do that with DNAexplain. Wonder where I can get one of those decals custom made.

RootsTech 2020 Hasani

Hasani Carter who I know from Facebook and who I discovered volunteering in a booth at RootsTech. I love to see younger people getting involved and to meet people in person. Love your dreads, Hasani.

RootsTech 2020 Randy Seaver

Cousin Randy Seaver who writes at Genea-Musings, daily, and has for YEARS. Believe it or not, he has published more than 13,000 articles, according to the Lifetime Achievement Award presented by Dear Myrtle at RootsTech. What an incredible legacy.

If you don’t already subscribe (it’s free), you’re missing out. By the way, I discovered Randy was my cousin when I read one of his 52 Ancestors articles, recognizing that his ancestor and my ancestor had the same surname in the same place. He knew the connection. Those articles really work. Thanks Randy – it was so good to see you again.

RootsTech 2020 univ dundee

The University of Dundee booth, with Sylvia Valentine and Pat Whatley, was really fun.  As part of their history and genealogy curriculum (you an earn certificates, bachelors and masters degrees,) they teach paleography, which, in case you are unaware is the official word for deciphering “ancient handwriting.” You didn’t know that’s what you’d been doing did you?

RootsTech 2020 paleography

They provided ink and quills for people to try their own hand.

RootsTech 2020 Paleography 2

The end of the feather quill pen is uneven and scratchy. Pieces separate and splatter ink. You can’t “write,” you draw the letters very, very carefully and slowly. I must say, my “signature” is more legible than normal.

Rootstech 2020 scribe

I now have a lot more empathy for those scribes. It’s probably a good thing that early records are no worse than they are.

RootsTech 2020 Gilad Japhet

Gilad Japhet at the MyHeritage luncheon. I have attended other vendor sponsored (but paid by the attendee) lunches at RootsTech in the past and found them disappointing, especially for the cost. Now MyHeritage is the only sponsored lunch that I attend and I always enjoy it immensely. Yes, I arrived early and sat dead center in front.

I also have a confession to make – I was so very excited about being contacted by Mary Tan Hai’s son that I was finishing colorizing the photos part of the time while Gilad was talking. (I did warn him so he didn’t think I was being rude.) But it’s HIS fault because he made these doggone photos so wonderful – and let’s just say time was short to get the photos to Mary’s family. You can read this amazing story, here.

Gilad always shares part of his own personal family story, and this time was no different. He shared that his mother is turning 85 soon and that the family, meaning her children and grandchildren all teamed up to make her a lovely video. Trust me, it was and made us all smile.

I’m so grateful for a genealogy company run by a genealogist. Speaking of that, Gilad’s mother was a MyHeritage board member in the beginning. That beginning also included a story about how the MyHeritage name came to be, and how Gilad managed to purchase the domain for an unwilling seller. Once again, by proxy, his mother entered into the picture. If you have the opportunity to hear Gilad speak – do – you won’t be disappointed. You’ll hear him speak for sure if you attend MyHeritage LIVE in Tel Aviv this October.

RootsTech 2020 Paul Woodbury

Paul Woodbury who works for Legacy Tree Genealogists, has a degree in both family history and genetics from BYU. He’s standing with Scott Fisher (left). Paul’s an excellent researcher and the only way you can put him to work on your brick wall is through Legacy Tree Genealogists. If you contact them for a quote, tell them I referred you for a $50 discount.

Rootstech 2020 Toolmaker meetup

From The ToolMaker’s Meetup, at far left, Jonny Pearl of DNAPainter, behind me, Dana Leeds who created The Leeds Method, and at right, Rob Warthen, the man behind DNAGedcom. Thanks to Michelle Patient for the photo.

RootsTech 2020 Toolmaker meetup 2

The meetup was well received and afforded people an opportunity to meet and greet, ask questions and provide input.

RootsTech 2020 Campbell baby

In fact, we’re working on recruiting the next generation. I have to say, my “grandma” kicked in and I desperately wanted to hold this beautiful baby girl. What a lovely family. Of course, when I noticed the family name is Campbell, we had a discussion of a different nature, especially since my cousin, Kevin Campbell and I were getting ready to have lunch. We will soon find out if Heidi’s husband is our relative, which makes her and her daughter our relative too!

Rootstech 2020 Kevin Campbell

It was so much fun to sit and develop a research plan with Kevin Campbell. We’re related, somehow on the Campbell line – we just have to sort out when and where.

Bless Your Heart

The photo I cherish most from RootsTech 2020 is the one that’s not pictured here.

A very special gentleman told me, when I asked if we could take a picture together, after he paid me the lovely compliment of saying that my session was the best one he had ever attended, that he doesn’t “do pictures.” Not in years, literally. I thought he was kidding at first, but he was deadly seriously.

The next day, I saw him again a couple of times and we shares stories. Our lives are very different, yet they still intersected in amazing ways. I feel like I’ve known him forever.

Then on the last day, he attended my Million Mito presentation and afterwards came up and told me a new story. How he had changed his mind, and what prompted the change of heart. Now we have a wonderful, lovely photo together which I will cherish all the more because I know how special it is – and how wonderful that makes me feel.

To my friend – you know who you are – thank you! You have blessed my heart. Bless yours😊

The Show Floor

I think I actually got all the way through the show floor, but I’m not positive. In some cases, the “rows” weren’t straight or had dead ends due to large booths, and it was possible to miss an area. I didn’t get to every booth I wanted to. Some were busy, some I simply forgot to take photos.

RootsTech 2020 everything

You can literally find almost anything.

I focused on booths related to genetic genealogy, but not exclusively.

RootsTech 2020 DNAPainter

Jonny Perl and the DNAPainter booth. I’ve written lots of articles, here, about using DNAPainter, one of my very favorite tools.

RootsTech 2020 Rootstech store

The RootsTech store was doing a brisk business.

RootsTech 2020 DNA basics

The RootsTech show area itself had a DNA Basics area which I thought was brilliant in its simplicity.

Inheritance is show by jellybeans.

Rootstech 2020 dNA beans

Put a cup under the outlet and pull the lever.

Rootstech 2020 beans in cup

How many of which color you receive in your cup is random, although you get exactly the same number from the maternal and paternal side.

Now you know I wanted to count these, don’t you?

Rootstech 2020 JellyGenes

And they are of course, called, “JellyGenes.” Those must be deletions still laying in the bin.

RootsTech 2020 Wikitree

WikiTree booth and volunteers. I love WikiTree – it’s “one great tree” is not perfect but these are the people, along with countless others that inject the “quality” into the process.

RootsTech 2020 MitoYDNA

MitoYDNA with Kevin Borland standing in front of the sign.

RootsTech 2020 Crossley

This amazing artist whose name I didn’t get. I was just so struck by her work, painting her ancestor from the picture on her phone.

RootsTech 2020 painter

I wish I was this talented. I would love to have some of my ancestor’s painted. Hmm….

Rootstech 2020 GeneaCreations

Jeanette at GeneaCreations makes double helix zipper pulls, along with lots of other DNA bling, and things not so blingy for men. These are just SOOO cool.

RootsTech 2020 zipper pull

I particularly love my “What’s Your Haplogroup” t-shirt and my own haplogroup t-shirt. Yes, she does custom work. What’s your haplogroup? You can see those goodies here.

Around the corner, I found CelebrateDNA.

RootsTech 2020 Celebrate DNA

Is that a Viking wearing a DNA t-shirt?

Rootstech 2020 day of the dead

CelebrateDNA has some very cool “Day of the Dead” bags, t-shirts and mouse pads, in addition to their other DNA t-shirts. I bought an “Every day is Day of the Dead for Genealogists” mouse pad which will live permanently in my technology travel bag. You can see their other goodies, here.

RootsTech 2020 skeleton

Hey, I think I found a relative. Can we DNA test to see?

Rootstech 2020 Mayflower replica

The Mayflower Society had a fun booth with a replica model ship.

RootsTech 2020 Mayflower passengers

Along with the list of passengers perched on a barrel of the type that likely held food or water for the Pilgrims.

RootsTech 2020 Webinar Marathon

Legacy Family Tree Webinars is going to have a 24-hour Genealogy Webinar Marathon March 12-13. So, who is going to stay up for this?Iit’s free and just take a look at the speakers, and topics, here. I’m guessing lots of people will take advantage of this opportunity. You can also subscribe for more webinars, here.

On March 4th, I’m presenting a FREE webinar, “3 Genealogy DNA Case Studies and How I Solved Them,” so sign up and join in!

Rootstech 2020 street art

Food at RootsTech falls into two categories. Anything purchased in the convention center meaning something to stave off starvation, and some restaurant with friends – the emphasis being on friends.

A small group went for pizza one evening when we were too exhausted to do anything else. Outside I found this interesting street art – and inside Settebello Pizzeria Napoletana I had the best Margarita Pizza I think I’ve ever had.

Then, as if I wasn’t already stuffed to the gills, attached through a doorway in the wall is Capo Gelateria Italiana, creators of artisan gelato. I’ve died and gone to heaven. Seriously, it’s a good thing I don’t live here.

Rootstech 2020 gelatto

Who says you can’t eat ice cold gelato in the dead of winter, outside waiting for the Uber, even if your insides are literally shivering and shaking!! It was that good.

This absolutely MUST BE a RootsTech tradition.

Rootstech 2020 ribbons

That’s it for RootsTech 2020. Hope you’ve enjoyed coming along on this virtual journey and that you’ve found something interesting, perhaps a new hint or tool to utilize.

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Thank you so much.

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Y DNA: Part 2 – The Dictionary of DNA

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

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

Dictionary haplogroup.png

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

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

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

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

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

Dictionary helix structure.png

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

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

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

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

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

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

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

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

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

Some confusion exists about Y DNA SNP equivalence.

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

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

Dictionary SNPs before branching.png

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

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

Dictionary SNP branches.png

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

SNP testing occurs in multiple ways, including:

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

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

Dictionary R.png

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

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

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

Dictionary R branches.png

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

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

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

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

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

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

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

Dictionary Y matches.png

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

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

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

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

Dictionary Y block tree.png

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

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

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

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

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

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

Dictionary panel 1.png

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

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

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

Indel example 1

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

STR example

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

Indel example 3

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

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

Dictionary insertion example.png

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

Dictionary insertion example 1.png

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

Indel example 2

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

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

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

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

Dictionary public tree.png

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

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

Need Something Else?

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

DNAexplain search box.png

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

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

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

Thank you so much.

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Top 10 All-Time Favorite DNA Articles

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Top 10

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

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

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

DNAeXplain articles have accumulated literally millions and millions of page views, generating more than 38,000 approved comments. Yes, I read and approve (or not) every single comment. No, I do not have “staff” to assist. Staff consists of some very helpful felines who would approve any comment with the word catnip😊

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

Old Faithful

Looking at your favorites, I’ve discovered that some of these articles have incredible staying power, meaning that people access them again and again. Given their popularity and usefulness, please feel free to share by linking or forwarding to your friends and genealogy groups.

Subscribe for FREE

Don’t forget, you can subscribe for free by clicking on the little grey “follow” box on the upper right hand side of the blog margin.

Top 10 subscribe

Just enter your e-mail address and click on follow. I don’t sell or share your e-mail, ever. I’ve never done a mass e-mailing either – so I’ll not be spamming you😊

You will receive each and every article, about 2 per week, in a nice handy e-mail, or RSS feed if you prefer.

Your Favorites

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

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

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

Starting with number 10, you chose:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2019 Only

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

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

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

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

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

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

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

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

In Summary

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

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

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

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

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

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

What Would You Like to See in 2020?

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

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

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

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

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

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

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Disclosure

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

Thank you so much.

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2019: The Year and Decade of Change

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

Everything has changed.

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

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

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

Just Beginning?

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

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

It’s been quite a ride!

What Has Changed?

EVERYTHING

Literally.

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

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

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

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

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

Family Tree DNA

2019 FTDNA

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

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

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

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

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

MyHeritage

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

2019 MyHeritage.png

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

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

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

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

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

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

23andMe

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

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

2019 23andMe.png

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

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

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

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

Ancestry

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

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

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

2019 Ancestry.png

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

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

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

Selling Customers’ DNA

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

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

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

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

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

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

Genealogy

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

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

Adoptees

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

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

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

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

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

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

Crimes Solved

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

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

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

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

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

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

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

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

New Concerns

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

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

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

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

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

I do have concerns:

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

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

Health

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

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

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

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

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

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

Whoever knew genealogy might save your life.

Innovative Third-Party Tools

Tools, and fads, come and go.

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

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

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

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

Genetic Affairs 2019 SNiPPY Award.png

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

2019 genetic affairs.png

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

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

Promising Newcomer

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

The Future

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

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

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

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

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

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

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

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

What About You?

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

How about the decade?

What do you think the future holds?

Do you care to make any predictions?

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

______________________________________________________________

Disclosure

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

Thank you so much.

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Genealogy Research

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Big Y News and Stats + Sale

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

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

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

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

Big Y Pricing Structure Change

FamilyTreeDNA recently anounced some product structure changes.

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

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

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

2019 has been a Banner Year

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

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

Drum roll please…

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

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

Haplotree Branches

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

Big Y 700 haplotree branches.png

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

Big Y 700 haplotree branches small.png

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

Big Y 700 haplotree branches large.png

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

Haplotree Variants

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

Big Y 700 variants.png

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

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

Big Y 700 variants small.png

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

Big Y 700 variants large.png

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

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

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

Big Y 700 Estes.png

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

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

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

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

Big Y 700 Estes block tree.png

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

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

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

Every. Single. One.

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

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

Reduced Prices

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

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

 

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

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

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

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

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

Click here to order or upgrade!

______________________________________________________________

Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

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Mitochondrial DNA Resources – Everything You Need to Know

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Mitochondrial DNA Resources

Recently, I wrote a multi-part series about mitochondrial DNA – start to finish – everything you need to know.

I’ve assembled several articles in one place, and I’ll add any new articles here as well.

Please feel free to share this resource or any of the links to individual articles with friends, genealogy groups or on social media.

What the Difference Between Mitochondrial and Other Types of DNA?

Mitochondrial DNA is inherited directly from your matrilineal line, only, meaning your mother’s mother’s mother’s mother – on up your family tree until you run out of direct line mothers that you’ve identified. The great news is even if you don’t know the identities of those people in your tree, you carry their mitochondrial DNA which can help identify them.

Here’s a short article about the different kinds of DNA that can be used for genealogy.

Why Mitochondrial DNA?

Let’s start out with why someone might want to test their mitochondrial DNA.

After you purchase a DNA test, swab, return the kit and when the lab finishes processing your test, you’ll receive your results on your personal page at FamilyTreeDNA, the only company that tests mitochondrial DNA at the full sequence level and provides matching with tens of thousands of other testers.

What About Those Results?

People want to understand how to use all of the different information provided to testers. These articles provide a step-by-step primer.

Mitochondrial DNA personal page update

Sign in to your Family Tree DNA account and use these articles as a guideline to step through your results on your personal page.

We begin with an overview. What is mitochondrial DNA, how it is inherited and why is it useful for genealogy?

Next, we look at your results and decode what all the numbers mean. It’s easy, really!

Our ancestors lived in clans, and our mitochondrial DNA has its own versions of clans too – called haplogroups. Your full haplogroup can be very informative.

Sometimes there’s more than meets the eye. Here are my own tips and techniques for more than doubling the usefulness of your matches.

You’ll want to wring every possible advantage out of your tests, so be sure to join relevant projects and use them to their fullest extent.

Do you know how to utilize advanced matching? It’s a very powerful tool. If not, you will after these articles.

Mitochondrial DNA Information for Everyone

FamilyTreeDNA maintains an extensive public mitochondrial DNA tree, complete with countries of origin for all branches. You don’t need to have tested to enjoy the public tree.

However, if you have tested, take a look to see where the earliest known ancestors of your haplogroup matches are located based on the country flags.

Mitochondrial resources haplotree

These are mine. Where are yours?

What Can Mitochondrial DNA Do for You?

Some people mistakenly think that mitochondrial DNA isn’t useful for genealogy. I’m here to testify that it’s not only useful, it’s amazing! Here are three stories from my own genealogy about how I’ve used mitochondrial DNA to learn more about my ancestors and in some cases, break right through brick walls.

It’s not only your own mitochondrial DNA that’s important, but other family members too.

My cousin tested her mitochondrial DNA to discover that her direct matrilineal ancestor was Native American, much to her surprise. The great news is that her ancestor is my ancestor too!

Searching for Native American Ancestors?

If you’re searching for Native American or particular ancestors, mitochondrial DNA can tell you specifically if your mitochondrial DNA, or that of your ancestors (if you test a direct matrilineal descendant,) is Native, African, European, Jewish or Asian. Furthermore, your matches provide clues as to what country your ancestor might be from and sometimes which regions too.

Did you know that people from different parts of the world have distinctive haplogroups?

You can discover your ancestors’ origins through their mitochondrial DNA.

You can even utilize autosomal segment information to track back in time to the ancestor you seek. Then you can obtain that ancestor’s mitochondrial DNA by selectively testing their descendants or finding people who have already tested that descend from that ancestor. Here’s how.

You never know what you’re going to discover when you test your mitochondrial DNA. I discovered that although my earliest known matrilineal ancestor is found in Germany, her ancestors were from Scandinavia. My cousin discovered that our common ancestor is Mi’kmaq.

What secrets will your mitochondrial DNA reveal?

You can test or upgrade your mitochondrial DNA by clicking here.

______________________________________________________________

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

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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.

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Why Different Haplogroup Results?

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“Why do vendors give me different haplogroups?”

This questions often comes up when people test with different vendors and receive different haplogroup results for both Y and mitochondrial DNA.

If you need a quick refresher on who carries which types of DNA, read 4 Kinds of DNA for Genetic Genealogy.

You’re the same person, right, so why would you receive different answers from different testing companies, and which answer is actually right?

The answer is pretty straightforward, conceptually – having to do with how vendors test and interpret your DNA.

Different companies test different pieces of your DNA, depending on:

  • The type of chip the company is using for testing
  • The way they have programmed the chip
  • The version of the reference “tree” they are using to assign haplogroups
  • The level they have decided to report

Therefore, their haplogroups reported may vary, and some may be more exact than others. Occasionally, a vendor outside the major testers is simply wrong.

Not All Tests are Created Equal

All haplogroups carry interesting information and can be at least somewhat genealogically useful. For example, haplogroups alone can tell you if your direct line DNA (paternal or matrilineal) is probably European, Asian, African or Native American. Note the word probably. This too may be subject to interpretation.

A basic haplogroup can rule out a genealogical match through a specific branch, but can’t confirm a genealogical match. You need to compare specific DNA locations not provided with haplogroup testing alone for genealogical matching. Plus you’ll need to add genealogical records where possible.

Let’s look at two examples.

Mitochondrial DNA

Your mitochondrial DNA is inherited from your mother’s direct line, on up you tree until you run out of mothers.  So, you, your mother, her mother, her mother…etc.

The red circles show the mitochondrial lineage in the pedigree chart, below.

If your mitochondrial haplogroup is H1a, for example, then your base haplogroup is “H”, the first branch is “1” and the next smaller branch is “a.”

Therefore, if you don’t match at H, your base haplogroup, you aren’t a possible match on that genealogical line. In other words, if you are H1a, or H plus anything, you can’t match on the direct matrilineal line of someone who is J1a, or J plus anything. H and J are different base haplogroups who haven’t shared a common ancestor in tens of thousands of years.

You can, however, potentially be related on any other line – just not on this specific line.

If your haplogroup does match, even exactly, that doesn’t mean you are related in a genealogically relevant timeframe. It means you share an ancestor, but that common ancestor may be back hundreds, thousands or even tens of thousands of years.

The further downstream, the younger the branches.  “H” is the oldest, then “1,” then “a” is the youngest.

Some companies might just test the locations for H, some for H1 and some for H1a.  Of course, there are even more haplogroups, like H1a2a. New, more refined haplogroups are discovered with each new version of the mitochondrial reference tree.

The only company that tests your haplogroup all the way to the end, meaning the most refined test possible to give you your complete haplogroup and all mutations, is Family Tree DNA with their mtFull Sequence test.

A quick comparison of my mitochondrial DNA at the following three vendors shows the following:

23andMe Living DNA Family Tree DNA Full Seqence
J1c2 J1c J1c2f

With Family Tree DNA’s full sequence test, you’ll receive your full haplogroup along with matching to other people who have taken mitochondrial DNA tests. They are the only vendor to offer Y and mitochondrial matching, because they are the only vendor that tests at that level.

Y DNA

Y DNA operates on the same principle. Specific locations called SNPs are tested by companies like 23andMe and Living DNA to provide customers with a branch level haplogroup. You don’t receive matching with these types of tests.

Just like with mitochondrial DNA, a basic branch level test can eliminate a match on the direct paternal (surname) branch but can’t confirm the genealogical match.

If your haplogroup branch is E-M2 and someone else’s is R-M269, you can’t share a common paternal ancestor because your base haplogroups don’t match, meaning E and R.

You can share an ancestor on any other line, just not on the direct Y line.

The blue squares show the Y DNA lineage on the pedigree chart below.

Family Tree DNA predicts your haplogroup for free if you take the 37, 67 or 111 marker Y-DNA STR test, but if you take the Big Y-500, your Y chromosome is completely tested and your haplogroup defined to the most refined level possible (often called your terminal SNP) – including mutations that may exist in only very few people. You also receive matching to other testers (with any Y test) which can be very genealogically relevant, plus bonus Y STR markers with the Y-500.

OK, But Why Do Different Companies Give Me Different Haplogroup Results?

Great question.

For this example, let’s say your haplogroup is H1a2a.

Let’s say that Company 1 uses a chip that they’ve programmed to test to the H1a level of haplogroup H1a2a.

Let’s say that Company 2 uses a chip that they’ve programmed to test to the H1 level of haplogroup H1a2a.

Let’s say that you take the full sequence test with Family Tree DNA and they fully test all 15,659 locations of your mitochondria and determine that you are H1a2a.

Company 1 will report your mitochondrial haplogroup as H1a, Company 2 as H1 and Family Tree DNA as H1a2a.

With mitochondrial DNA, you can at least see some consist pathway in naming practices, meaning H, H1, H1a, etc., so you can tell that you’re on the same branch.

With Y DNA, the only consistent part is the base haplogroup.

With Y DNA, let’s say that Company 1 programs their chip to test for specific SNP  locations, and they return a Y DNA haplogroup of R-L21.

Company 2 programs their chip to test for fewer or different locations and they return a Y DNA haplogroup of R-M269.

You purchase a Big Y-500 test at Family Tree DNA, and they return your haplogroup as R-CTS3386.

All three haplogroups can be correct, as far as they go. It’s just that they don’t test the same distance down the Y chromosome tree.

R-M269, R-L21 and R-CTS3386 are all increasingly smaller branches on the Y haplotree.

Furthermore, for both Y and mitochondrial DNA, there is always a remote possibility that a critical location won’t be able to be read in your DNA sample that might affect your haplogroup.

Obtaining Your Haplogroup

I strongly encourage people to test with and upload to only well-known major companies or organizations. Some companies provide haplogroup information that is simply wrong.

Companies that I am comfortable with relative to haplogroups include:

Neither MyHeritage nor Ancestry provide Y or mitochondrial haplogroups.

The chart below shows the various vendor offerings, including Y and mitochondrial DNA matching.

Company Offerings Matching
Family Tree DNA – Y DNA Y haplogroup is estimated with STR test. Haplogroup provided to most refined level possible with Big Y-500 test. Individual SNP tests also available. Yes
Family Tree DNA – mitochondrial At least base haplogroup provided with mtPlus test, plus more if possible, but full haplogroup plus additional mutations provided with mtFull Sequence test. Yes
Genographic Project (obsolete in 2019) More than base haplogroup for both Y and mitochondrial, but not full haplogroup on either. No
23andMe More than base haplogroup for both Y and mitochondrial, but not full haplogroup on either. No
Living DNA More than base haplogroup for both Y and mitochondrial, but not full haplogroup on either. No

Want More Detail?

If you’d like to read a more detailed answer about how haplogroups are determined, take a look at the article, Haplogroup Comparisons Between Family Tree DNA and 23andMe.

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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