Category Archives: Jewish

DNA: In Search of…Signs of Endogamy

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This is the fourth in our series of articles about searching for unknown close family members, specifically; parents, grandparents, or siblings. However, these same techniques can be applied by genealogists to ancestors further back in time as well.

In this article, we discuss endogamy – how to determine if you have it, from what population, and how to follow the road signs.

After introductions, we will be covering the following topics:

  • Pedigree collapse and endogamy
  • Endogamous groups
  • The challenge(s) of endogamy
  • Endogamy and unknown close relatives (parents, grandparents)
  • Ethnicity and Populations
  • Matches
  • AutoClusters
  • Endogamous Relationships
  • Endogamous DNA Segments
  • “Are Your Parents Related?” Tool
  • Surnames
  • Projects
  • Locations
  • Y DNA, Mitochondrial DNA, and Endogamy
  • Endogamy Tools Summary Tables
    • Summary of Endogamy Tools by Vendor
    • Summary of Endogamous Populations Identified by Each Tool
    • Summary of Tools to Assist People Seeking Unknown Parents and Grandparents

What Is Endogamy and Why Does It Matter?

Endogamy occurs when a group or population of people intermarry among themselves for an extended period of time, without the introduction of many or any people from outside of that population.

The effect of this continual intermarriage is that the founders’ DNA simply gets passed around and around, eventually in small segments.

That happens because there is no “other” DNA to draw from within the population. Knowing or determining that you have endogamy helps make sense of DNA matching patterns, and those patterns can lead you to unknown relatives, both close and distant.

This Article

This article serves two purposes.

  • This article is educational and relevant for all researchers. We discuss endogamy using multiple tools and examples from known endogamous people and populations.
  • In order to be able to discern endogamy when we don’t know who our parents or grandparents are, we need to know what signs and signals to look for, and why, which is based on what endogamy looks like in people who know their heritage.

There’s no crystal ball – no definitive “one-way” arrow, but there are a series of indications that suggest endogamy.

Depending on the endogamous population you’re dealing with, those signs aren’t always the same.

If you’re sighing now, I understand – but that’s exactly WHY I wrote this article.

We’re covering a lot of ground, but these road markers are invaluable diagnostic tools.

I’ve previously written about endogamy in the articles:

Let’s start with definitions.

Pedigree Collapse and Endogamy

Pedigree collapse isn’t the same as endogamy. Pedigree collapse is when you have ancestors that repeat in your tree.

In this example, the parents of our DNA tester are first cousins, which means the tester shares great-grandparents on both sides and, of course, the same ancestors from there on back in their tree.

This also means they share more of those ancestors’ DNA than they would normally share.

John Smith and Mary Johnson are both in the tree twice, in the same position as great-grandparents. Normally, Tester Smith would carry approximately 12.5% of each of his great-grandparents’ DNA, assuming for illustration purposes that exactly 50% of each ancestor’s DNA is passed in each generation. In this case, due to pedigree collapse, 25% of Tester Smith’s DNA descends from John Smith, and another 25% descends from Mary Johnson, double what it would normally be. 25% is the amount of DNA contribution normally inherited from grandparents, not great-grandparents.

While we may find first cousin marriages a bit eyebrow-raising today, they were quite common in the past. Both laws and customs varied with the country, time, social norms, and religion.

Pedigree Collapse and Endogamy is NOT the Same

You might think that pedigree collapse and endogamy is one and the same, but there’s a difference. Pedigree collapse can lead to endogamy, but it takes more than one instance of pedigree collapse to morph into endogamy within a population. Population is the key word for endogamy.

The main difference is that pedigree collapse occurs with known ancestors in more recent generations for one person, while endogamy is longer-term and systemic in a group of people.

Picture a group of people, all descended from Tester Smith’s great-grandparents intermarrying. Now you have the beginnings of endogamy. A couple hundred or a few hundred years later, you have true endogamy.

In other words, endogamy is pedigree collapse on a larger scale – think of a village or a church.

My ancestors’ village of Schnait, in Germany, is shown above in 1685. One church and maybe 30 or 40 homes. According to church and other records, the same families had inhabited this village, and region, for generations. It’s a sure bet that both pedigree collapse and endogamy existed in this small community.

If pedigree collapse happens over and over again because there are no other people within the community to marry, then you have endogamy. In other words, with endogamy, you assuredly DO have historical pedigree collapse, generally back in time, often before you can identify those specific ancestors – because everyone descends from the same set of founders.

Endogamy Doesn’t Necessarily Indicate Recent Pedigree Collapse

With deep, historic endogamy, you don’t necessarily have recent pedigree collapse, and in fact, many people do not. Jewish people are a good example of this phenomenon. They shared ancestors for hundreds or thousands of years, depending on which group we are referring to, but in recent, known, generations, many Jewish people aren’t related. Still, their DNA often matches each other.

The good news is that there are telltale signs and signals of endogamy.

The bad news is that not all of these are obvious, meaning as an aid to people seeking clues about unknown close relatives, and other “signs” aren’t what they are believed to be.

Let’s step through each endogamy identifier, or “hint,” and then we will review how we can best utilize this information.

First, let’s take a look at groups that are considered to be endogamous.

Endogamous Groups

Jewish People – Specifically groups that were isolated from other groups of Jewish (and other) people; Ashkenazi (Germany, Northern France, and diaspora), Sephardic (Spanish, Iberia, and diaspora), Mizrahi (Israel, Middle Eastern, and diaspora,) Ethiopian Jews, and possibly Jews from other locations such as Mountain Jews from Kazakhstan and the Caucasus.

Acadians – Descendants of about 60 French families who settled in “Acadia” beginning about 1604, primarily on the island of Nova Scotia, and intermarried among themselves and with the Mi’kmaq people. Expelled by the English in 1755, they were scattered in groups to various diasporic regions where they continued to intermarry and where their descendants are found today. Some Acadians became the Cajuns of Louisiana.

Anabaptist Protestant Faiths – Amish, Mennonite, and Brethren (Dunkards) and their offshoots are Protestant religious sects founded in Europe in the 14th, 15th, and 16th centuries on the principle of baptizing only adults or people who are old enough to choose to follow the faith, or rebaptizing people who had been previously baptized as children. These Anabaptist faiths tend to marry within their own group or church and often expel those who marry outside of the faith. Many emigrated to the American colonies and elsewhere, seeking religious freedom. Occasionally those groups would locate in close proximity and intermarry, but not marry outside of other Anabaptist denominations.

Native American (Indigenous) People – all indigenous peoples found in North and South America before European colonization descended from a small number of original founders who probably arrived at multiple times.

Indigenous Pacific Islanders – Including indigenous peoples of Australia, New Zealand, and Hawaii prior to colonization. They are probably equally as endogamous as Native American people, but I don’t have specific examples to share.

Villages – European or other villages with little inflow or whose residents were restricted from leaving over hundreds of years.

Other groups may have significant multiple lines of pedigree collapse and therefore become endogamous over time. Some people from Newfoundland, French Canadians, and Mormons (Church of Jesus Christ of Latter-Day Saints) come to mind.

Endogamy is a process that occurs over time.

Endogamy and Unknown Relatives

If you know who your relatives are, you may already know you’re from an endogamous population, but if you’re searching for close relatives, it’s helpful to be able to determine if you have endogamous heritage, at least in recent generations.

If you know nothing about either parent, some of these tools won’t help you, at least not initially, but others will. However, as you add to your knowledge base, the other tools will become more useful.

If you know the identity of one parent, this process becomes at least somewhat easier.

In future articles, we will search specifically for parents and each of your four grandparents. In this article, I’ll review each of the diagnostic tools and techniques you can use to determine if you have endogamy, and perhaps pinpoint the source.

The Challenge

People with endogamous heritage are related in multiple, unknown ways, over many generations. They may also be related in known ways in recent generations.

If both of your parents share the SAME endogamous culture or group of relatives:

  • You may have significantly more autosomal DNA matches than people without endogamy, unless that group of people is under-sampled. Jewish people have significantly more matches, but Native people have fewer due to under-sampling.
  • You may experience a higher-than-normal cM (centiMorgan) total for estimated relationships, especially more distant relationships, 3C and beyond.
  • You will have many matches related to you on both your maternal and paternal sides.
  • Parts of your autosomal DNA will be the same on both your mother’s and father’s sides, meaning your DNA will be fully identical in some locations. (I’ll explain more in a minute.)

If either (or both) of your parents are from an endogamous population, you:

  • Will, in some cases, carry identifying Y and mitochondrial DNA that points to a specific endogamous group. This is true for Native people, can be true for Jewish people and Pacific Islanders, but is not true for Anabaptist people.

One Size Does NOT Fit All

Please note that there is no “one size fits all.”

Each or any of these tools may provide relevant hints, depending on:

  • Your heritage
  • How many other people have tested from the relevant population group
  • How many close or distant relatives have tested
  • If your parents share the same heritage
  • Your unique DNA inheritance pattern
  • If your parents, individually, were fully endogamous or only partly endogamous, and how far back generationally that endogamy occurred

For example, in my own genealogy, my maternal grandmother’s father was Acadian on his father’s side. While I’m not fully endogamous, I have significantly more matches through that line proportionally than on my other lines.

I have Brethren endogamy on my mother’s side via her paternal grandmother.

Endogamous ancestors are shown with red stars on my mother’s pedigree chart, above. However, please note that her maternal and paternal endogamous ancestors are not from the same endogamous population.

However, I STILL have fewer matches on my mother’s side in total than on my father’s side because my mother has recent Dutch and recent German immigrants which reduces her total number of matches. Neither of those lines have had as much time to produce descendants in the US, and Europe is under-sampled when compared with the US where more people tend to take DNA tests because they are searching for where they came from.

My father’s ancestors have been in the US since it was a British Colony, and I have many more cousins who have tested on his side than mother’s.

If you looked at my pedigree chart and thought to yourself, “that’s messy,” you’d be right.

The “endogamy means more matches” axiom does not hold true for me, comparatively, between my parents – in part because my mother’s German and Dutch lines are such recent immigrants.

The number of matches alone isn’t going to tell this story.

We are going to need to look at several pieces and parts for more information. Let’s start with ethnicity.

Ethnicity and Populations

Ethnicity can be a double-edged sword. It can tell you exactly nothing you couldn’t discern by looking in the mirror, or, conversely, it can be a wealth of information.

Ethnicity reveals the parts of the world where your ancestors originated. When searching for recent ancestors, you’re most interested in majority ethnicity, meaning the 50% of your DNA that you received from each of your parents.

Ethnicity results at each vendor are easy to find and relatively easy to understand.

This individual at FamilyTreeDNA is 100% Ashkenazi Jewish.

If they were 50% Jewish, we could then estimate, and that’s an important word, that either one of their parents was fully Jewish, and not the other, or that two of their grandparents were Jewish, although not necessarily on the same side.

On the other hand, my mother’s ethnicity, shown below, has nothing remarkable that would point to any majority endogamous population, yet she has two.

The only hint of endogamy from ethnicity would be her ~1% Americas, and that isn’t relevant for finding close relatives. However, minority ancestry is very relevant for identifying Native ancestors, which I wrote about, here.

You can correlate or track your ethnicity segments to specific ancestors, which I discussed in the article, Native American & Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments, here.

Since I wrote that article, FamilyTreeDNA has added the feature of ethnicity or population Chromosome Painting, based on where each of your populations fall on your chromosomes.

In this example on chromosome 1, I have European ancestry (blue,) except for the pink Native segment, which occurs on the following segment in the same location on my mother’s chromosome 1 as well.

Both 23andMe, and FamilyTreeDNA provide chromosome painting AND the associated segment information so you can identify the relevant ancestors.

Ancestry is in the process of rolling out an ethnicity painting feature, BUT, it has no segment or associated matching information. While it’s interesting eye candy, it’s not terribly useful beyond the ethnicity information that Ancestry already provides. However, Jonny Perl at DNAPainter has devised a way to estimate Ancestry’s start and stop locations, here. Way to go Jonny!

Now all you need to do is convince your Ancestry matches to upload their DNA file to one of the three databases, FamilyTreeDNA, MyHeritage, and GEDMatch, that accept transfers, aka uploads. This allows matching with segment data so that you can identify who matches you on that segment, track your ancestors, and paint your ancestral segments at DNAPainter.

I provided step-by-step instructions, here, for downloading your raw DNA file from each vendor in order to upload the file to another vendor.

Ethnicity Sides

Three of the four DNA testing vendors, 23andMe, FamilyTreeDNA, and recently, Ancestry, attempt to phase your ethnicity DNA, meaning to assign it to one parental “side” or the other – both in total and on each chromosome.

Here’s Ancestry’s SideView, where your DNA is estimated to belong to parent 1 and parent 2. I detailed how to determine which side is which, here, and while that article was written specifically pertaining to Ancestry’s SideView, the technique is relevant for all the vendors who attempt to divide your DNA into parents, a technique known as phasing.

I say “attempt” because phasing may or may not be accurate, meaning the top chromosome may not always be parent 1, and the bottom chromosome may not always be chromosome 2.

Here’s an example at 23andMe.

See the two yellow segments. They are both assigned as Native. I happen to know one is from the mother and one is from the father, yet they are both displayed on the “top” chromosome, which one would interpret to be the same parent.

I am absolutely positive this is not the case because this is a close family member, and I have the DNA of the parent who contributed the Native segment on chromosome 1, on the top chromosome. That parent does not have a Native segment on chromosome 2 to contribute. So that Native segment had to be contributed by the other parent, but it’s also shown on the top chromosome.

The DNA segments circled in purple belong together on the same “side” and were contributed to the tester by the same parent. The Native segment on chromosome 2 abuts a purple African segment, suggesting perhaps that the ancestor who contributed that segment was mixed between those ethnicities. In the US, that suggests enslavement.

The other African segments, circled, are shown on the second chromosome in each pair.

To be clear, parent 1 is not assigned by the vendors to either mother or father and will differ by person. Your parent 1, or the parent on the top chromosome may be your mother and another person’s parent 1 may be their father.

As shown in this example, parents can vary by chromosome, a phenomenon known as “strand swap.” Occasionally, the DNA can even be swapped within a chromosome assignment.

You can, however, get an idea of the division of your DNA at any specific location. As shown above, you can only have a maximum of two populations of DNA on any one chromosome location.

In our example above, this person’s majority ancestry is European (blue.) On each chromosome where we find a minority segment, the opposite chromosome in the same location is European, meaning blue.

Let’s look at another example.

At FamilyTreeDNA, the person whose ethnicity painting is shown below has a Native American (pink) ancestor on their father’s side. FamilyTreeDNA has correctly phased or identified their Native segments as all belonging to the second chromosome in each pair.

Looking at chromosome 18, for example, most of their father’s chromosome is Native American (pink). The other parent’s chromosome is European (dark blue) at those same locations.

If one of the parents was of one ethnicity, and the other parent is a completely different ethnicity, then one bar of each chromosome would be all pink, for example, and one would be entirely blue, representing the other ethnicity.

Phasing ethnicity or populations to maternal and paternal sides is not foolproof, and each chromosome is phased individually.

Ethnicity can, in some cases, give you a really good idea of what you’re dealing with in terms of heritage and endogamy.

If someone had an Ashkenazi Jewish father and European mother, for example, one copy of each chromosome would be yellow (Ashkenazi Jewish), and one would be blue (European.)

However, if each of their parents were half European Jewish and half European (not Jewish), then their different colored segments would be scattered across their entire set of chromosomes.

In this case, both of the tester’s parents are mixed – European Jewish (green) and Western Europe (blue.) We know both parents are admixed from the same two populations because in some locations, both parents contributed blue (Western Europe), and in other locations, both contributed Jewish (green) segments.

Both MyHeritage and Ancestry provide a secondary tool that’s connected to ethnicity, but different and generally in more recent times.

Ancestry’s DNA Communities

While your ethnicity may not point to anything terribly exciting in terms of endogamy, Genetic Communities might. Ancestry says that a DNA Community is a group of people who share DNA because their relatives recently lived in the same place at the same time, and that communities are much smaller than ethnicity regions and reach back only about 50-300 years.

Based on the ancestors’ locations in the trees of me and my matches, Ancestry has determined that I’m connected to two communities. In my case, the blue group is clearly my father’s line. The orange group could be either parent, or even a combination of both.

My endogamous Brethren could be showing up in Maryland, Pennsylvania, and Ohio, but it’s uncertain, in part, because my father’s ancestral lines are found in Virginia, West Virginia, and Maryland too.

These aren’t useful for me, but they may be more useful for fully endogamous people, especially in conjunction with ethnicity.

My Acadian cousin’s European ethnicity isn’t informative.

However, viewing his DNA Communities puts his French heritage into perspective, especially combined with his match surnames.

I wrote about DNA Communities when it was introduced with the name Genetic Communities, here.

MyHeritage’s Genetic Groups

MyHeritage also provides a similar feature that shows where my matches’ ancestors lived in the same locations as mine.

One difference, though, is that testers can adjust their ethnicity results confidence level from high, above, to low, below where one of my Genetic Groups overlaps my ethnicity in the Netherlands.

You can also sort your matches by Genetic Groups.

The results show you not only who is in the group, but how many of your matches are in that group too, which provides perspective.

I wrote about Genetic Groups, here.

Next, let’s look at how endogamy affects your matches.

Matches

The number of matches that a person has who is from an entirely endogamous community and a person with no endogamy may be quite different.

FamilyTreeDNA provides a Family Matching feature that triangulates your matches and assigns them to your paternal or maternal side by using known matches that you have linked to their profile cards in your tree. You must link people for the Family Matching feature known as “bucketing” to be enabled.

The people you link are then processed for shared matches on the same chromosome segment(s). Triangulated individuals are then deposited in your maternal, paternal, and both buckets.

Obviously, your two parents are the best people to link, but if they haven’t tested (or uploaded their DNA file from another vendor) and you have other known relatives, link them using the Family Tree tab at the top of your personal page.

I uploaded my Ancestry V4 kit to use as an example for linking. Let’s pretend that’s my sister. If I had not already linked my Ancestry V4 kit to “my sister’s” profile card, I’d want to do that and link other known individuals the same way. Just drag and drop the match to the correct profile card.

Note that a full or half sibling will be listed as such at FamilyTreeDNA, but an identical twin will show as a potential parent/child match to you. You’re much more likely to find a parent than an identical twin, but just be aware.

I’ve created a table of FamilyTreeDNA bucketed match results, by category, comparing the number of matches in endogamous categories with non-endogamous.

Total Matches Maternal Matches Paternal Matches Both % Both % DNA Unassigned
100% Jewish 34,637 11,329 10,416 4,806 13.9 23.3
100% Jewish 32,973 10,700 9,858 4,606 14 23.7
100% Jewish 32,255 9,060 10,970 3,892 12 25.8
75% Jewish 24,232 11,846 Only mother linked Only mother linked Only mother linked
100% Acadian 8093 3826 2299 1062 13 11
100% Acadian 7828 3763 1825 923 11.8 17
Not Endogamous 6760 3845 1909 13 0.19 14.5
Not Endogamous 7723 1470 3317 6 0.08 38
100% Native American 1,115 Unlinked Unlinked Unlinked
100% Native American 885 290 Unknown Can’t calculate without at least one link on both sides

The 100% Jewish, Acadian, and Not Endogamous testers both have linked their parents, so their matches, if valid (meaning not identical by chance, which I discussed here,) will match them plus one or the other parent.

One person is 75% Jewish and has only linked their Jewish mother.

The Native people have not tested their parents, and the first Native person has not linked anyone in their tree. The second Native person has only linked a few maternal matches, but their mother has not tested. They are seeking their father.

It’s very difficult to find people who are fully Native as testers. Furthermore, Native people are under-sampled. If anyone knows of fully Native (or other endogamous) people who have tested and linked their parents or known relatives in their trees, and will allow me to use their total match numbers anonymously, please let me know.

As you can see, Jewish, Acadian, and Native people are 100% endogamous, but many more Jewish people than Native people have tested, so you CAN’T judge endogamy by the total number of matches alone.

In fact, in order:

  • Fully Jewish testers have about 4-5 times as many matches as the Acadian and Non-endogamous testers
  • Acadian and Non-endogamous testers have about 5-6 times as many matches as the Native American testers
  • Fully Jewish people have about 30 times more matches than the Native American testers

If a person’s endogamy with a particular population is only on their maternal or paternal side, they won’t have a significant number of people related to both sides, meaning few people will fall into the “Both” bucket. People that will always be found in the ”Both” bucket are full siblings and their descendants, along with descendants of the tester, assuming their match is linked to their profiles in the tester’s tree.

In the case of our Jewish testers, you can easily see that the “Both” bucket is very high. The Acadians are also higher than one would reasonably expect without endogamy. A non-endogamous person might have a few matches on both sides, assuming the parents are not related to each other.

A high number of “Both” matches is a very good indicator of endogamy within the same population on both parents’ sides.

The percentage of people who are assigned to the “Both” bucket is between 11% and 14% in the endogamous groups, and less than 1% in the non-endogamous group, so statistically not relevant.

As demonstrated by the Native people compared to the Jewish testers, the total number of matches can be deceiving.

However, being related to both parents, as indicated by the “Both” bucket, unless you have pedigree collapse, is a good indicator of endogamy.

Of course, if you don’t know who your relatives are, you can’t link them in your tree, so this type of “hunt” won’t generally help people seeking their close family members.

However, you may notice that you’re matching people PLUS both of their parents. If that’s the case, start asking questions of those matches about their heritage.

A very high number of total matches, as compared to non-endogamous people, combined with some other hints might well point to Jewish heritage.

I included the % DNA Unassigned category because this category, when both parents are linked, is the percentage of matches by chance, meaning the match doesn’t match either of the tester’s parents. All of the people with people listed in “Both” categories have linked both of their parents, not just maternal and paternal relatives.

Matching Location at MyHeritage

MyHeritage provides a matching function by location. Please note that it’s the location of the tester, but that may still be quite useful.

The locations are shown in the most-matches to least-matches order. Clicking on the location shows the people who match you who are from that location. This would be the most useful in situations where recent immigration has occurred. In my case, my great-grandfather from the Netherlands arrived in the 1860s, and my German ancestors arrived in the 1850s. Neither of those groups are endogamous, though, unless it would be on a village level.

AutoClusters

Let’s shift to Genetic Affairs, a third-party tool available to everyone.

Using their AutoCluster function, Genetic Affairs clusters your matches together who match both each other and you.

This is an example of the first few clusters in my AutoCluster. You can see that I have several colored clusters of various sizes, but none are huge.

Compare that to the following endogamous cluster, sample courtesy of EJ Blom at Genetic Affairs.

If your AutoCluster at Genetic Affairs looks something like this, a huge orange blob in the upper left hand corner, you’re dealing with endogamy.

Please also note that the size of your cluster is also a function of both the number of testers and the match threshold you select. I always begin by using the defaults. I wrote about using Genetic Affairs, here.

If you tested at or transferred to MyHeritage, they too license AutoClusters, but have optimized the algorithm to tease out endogamous matches so that their Jewish customers, in particular, don’t wind up with a huge orange block of interrelated people.

You won’t see the “endogamy signature” huge cluster in the corner, so you’re less likely to be able to discern endogamy from a MyHeritage cluster alone.

The commonality between these Jewish clusters at MyHeritage is that they all tend to be rather uniform in size and small, with lots of grey connecting almost all the blocks.

Grey cells indicate people who match people in two colored groups. In other words, there is often no clear division in clusters between the mother’s side and the father’s side in Jewish clusters.

In non-endogamous situations, even if you can’t identify the parents, the clusters should still fall into two sides, meaning a group of clusters for each parent’s side that are not related to each other.

You can read more about Genetic Affairs clusters and their tools, here. DNAGedcom.com also provides a clustering tool.

Endogamous Relationships

Endogamous estimated relationships are sometimes high. Please note the word, “sometimes.”

Using the Shared cM Project tool relationship chart, here, at DNAPainter, people with heavy endogamy will discover that estimated relationships MAY be on the high side, or the relationships may, perhaps, be estimated too “close” in time. That’s especially true for more distant relationships, but surprisingly, it’s not always true. The randomness of inheritance still comes into play, and so do potential unknown relatives. Hence, the words “may” are bolded and underscored.

Unfortunately, it’s often stated as “conventional wisdom” that Jewish matches are “always” high, and first cousins appear as siblings. Let’s see what the actual data says.

At DNAPainter, you can either enter the amount of shared DNA (cM), or the percent of shared DNA, or just use the chart provided.

I’ve assembled a compilation of close relationships in kits that I have access to or from people who were generous enough to share their results for this article.

I’ve used Jewish results, which is a highly endogamous population, compared with non-endogamous testers.

The “Jewish Actual” column reports the total amount of shared DNA with that person. In other words, someone to their grandparent. The Average Range is the average plus the range from DNAPainter. The Percent Difference is the % difference between the actual number and the DNAPainter average.

You’ll see fully Jewish testers, at left, matching with their family members, and a Non-endogamous person, at right, matching with their same relative.

Relationship Jewish Actual Percent Difference than Average Average -Range Non-endogamous Actual Percent Difference than Average
Grandparent 2141 22 1754 (984-2482) 1742 <1 lower
Grandparent 1902 8.5 1754 (984-2482) 1973 12
Sibling 3039 16 2613 (1613-3488) 2515 3.5 lower
Sibling 2724 4 2613 (1613-3488) 2761 5.5
Half-Sibling 2184 24 1759 (1160-2436) 2127 21
Half-Sibling 2128 21 1759 (1160-2436) 2352 34
Aunt/Uncle 2066 18.5 1741 (1201-2282) 1849 6
Aunt/Uncle 2031 16.5 1741 (1201-2282) 2097 20
1C 1119 29 866 (396-1397) 959 11
1C 909 5 866 (396-1397) 789 9 lower
1C1R 514 19 433 (102-980) 467 8
1C1R 459 6 433 (102-980) 395 9 lower

These totals are from FamilyTreeDNA except one from GEDMatch (one Jewish Half-sibling).

Totals may vary by vendor, even when matching with the same person. 23andMe includes the X segments in the total cMs and also counts fully identical segments twice. MyHeritage imputation seems to err on the generous side.

However, in these dozen examples:

  • You can see that the Jewish actual amount of DNA shared is always more than the average in the estimate.
  • The red means the overage is more than 100 cM larger.
  • The percentage difference is probably more meaningful because 100 cM is a smaller percentage of a 1754 grandparent connection than compared to a 433 cM 1C1R.

However, you can’t tell anything about endogamy by just looking at any one sample, because:

  • Some of the Non-Endogamous matches are high too. That’s just the way of random inheritance.
  • All of the actual Jewish match numbers are within the published ranges, but on the high side.

Furthermore, it can get more complex.

Half Endogamous

I requested assistance from Jewish genealogy researchers, and a lovely lady, Sharon, reached out, compiled her segment information, and shared it with me, granting permission to share with you. A HUGE thank you to Sharon!

Sharon is half-Jewish via one parent, and her half-sibling is fully Jewish. Their half-sibling match to each other at Ancestry is 1756 cM with a longest segment of 164 cM.

How does Jewish matching vary if you’re half-Jewish versus fully Jewish? Let’s look at 21 people who match both Sharon and her fully Jewish half-sibling.

Sharon shared the differences in 21 known Jewish matches with her and her half-sibling. I’ve added the Relationship Estimate Range from DNAPainter and colorized the highest of the two matches in yellow. Bolding in the total cM column shows a value above the average range for that relationship.

Total Matching cMs is on the left, with Longest Segment on the right.

While this is clearly not a scientific study, it is a representative sample.

The fully Jewish sibling carries more Jewish DNA, which is available for other Jewish matches to match as a function of endogamy (identical by chance/population), so I would have expected the fully Jewish sibling to match most if not all Jewish testers at a higher level than the half-Jewish sibling.

However, that’s not universally what we see.

The fully Jewish sibling is not always the sibling with the highest number of matches to the other Jewish testers, although the half-Jewish tester has the larger “Longest Segment” more often than not.

Approximately two-thirds of the time (13/21), the fully Jewish person does have a higher total matching cM, but about one-third of the time (8/21), the half-Jewish sibling has a higher matching cM.

About one-fourth of the time (5/21), the fully Jewish sibling has the longest matching segment, and about two-thirds of the time (13/21), the half-Jewish sibling does. In three cases, or about 14% of the time, the longest segment is equal which may indicate that it’s the same segment.

Because of endogamy, Jewish matches are more likely to have:

  • Larger than average total cM for the specific relationship
  • More and smaller matching segments

However, as we have seen, neither of those are definitive, nor always true. Jewish matches and relationships are not always overestimated.

Ancestry and Timber

Please note that Ancestry downweights some matches by removing some segments using their Timber algorithm. Based on my matches and other accounts that I manage, Ancestry does not downweight in the 2-3rd cousin category, which is 90 cM and above, but they do begin downweighting in the 3-4th cousin category, below 90 cM, where my “Extended Family” category begins.

If you’ve tested at Ancestry, you can check for yourself.

By clicking on the amount of DNA you share with your match on your match list at Ancestry, shown above, you will be taken to another page where you will be able to view the unweighted shared DNA with that match, meaning the amount of DNA shared before the downweighting and removal of some segments, shown below.

Given the downweighting, and the information in the spreadsheet provided by Sharon, it doesn’t appear that any of those matches would have been in a category to be downweighted.

Therefore, for these and other close matches, Timber wouldn’t be a factor, but would potentially be in more distant matches.

Endogamous Segments

Endogamous matches tend to have smaller and more segments. Small amounts of matching DNA tend to skew the total DNA cM upwards.

How and why does this happen?

Ancestral DNA from further back in time tends to be broken into smaller segments.

Sometimes, especially in endogamous situations, two smaller segments, at one time separated from each other, manage to join back together again and form a match, but the match is only due to ancestral segments – not because of a recent ancestor.

Please note that different vendors have different minimum matching cM thresholds, so smaller matches may not be available at all vendors. Remember that factors like Timber and imputation can affect matching as well.

Let’s take a look at an example. I’ve created a chart where two ancestors have their blue and pink DNA broken into 4 cM segments.

They have children, a blue child and a pink child, and the two children, shown above, each inherited the same blue 4 cM segment and the same pink 4 cM segment from their respective parents. The other unlabeled pink and blue segments are not inherited by these two children, so those unlabeled segments are irrelevant in this example.

The parents may have had other children who inherited those same 4 cM labeled pink and blue segments as well, and if not, the parents’ siblings were probably passing at least some of the same DNA down to their descendants too.

The blue and pink children had children, and their children had children – for several generations.

Time passed, and their descendants became an endogamous community. Those pink and blue 4 cM segments may at some time be lost during recombination in the descendants of each of their children, shown by “Lost pink” and “Lost blue.”

However, because there is only a very limited amount of DNA within the endogamous community, their descendants may regain those same segments again from their “other parent” during recombination, downstream.

In each generation, the DNA of the descendant carrying the original blue or pink DNA segment is recombined with their partner. Given that the partners are both members of the same endogamous community, the two people may have the same pink and/or blue DNA segments. If one parent doesn’t carry the pink 4 cM segment, for example, their offspring may receive that ancestral pink segment from the other parent.

They could potentially, and sometimes do, receive that ancestral segment from both parents.

In our example, the descendants of the blue child, at left, lost the pink 4 cM segment in generation 3, but a few generations later, in generation 11, that descendant child inherited that same pink 4 cM segment from their other parent. Therefore, both the 4 cM blue and 4 cM pink segments are now available to be inherited by the descendants in that line. I’ve shown the opposite scenario in the generational inheritance at right where the blue segment is lost and regained.

Once rejoined, that pink and blue segment can be passed along together for generations.

The important part, though, is that once those two segments butt up against each other again during recombination, they aren’t just two separate 4 cM segments, but one segment that is 8 cM long – that is now equal to or above the vendors’ matching threshold.

This is why people descended from endogamous populations often have the following matching characteristics:

  • More matches
  • Many smaller segment matches
  • Their total cM is often broken into more, smaller segments

What does more, smaller segments, look like, exactly?

More, Smaller Segments

All of our vendors except Ancestry have a chromosome browser for their customers to compare their DNA to that of their matches visually.

Let’s take a look at some examples of what endogamous and non-endogamous matches look like.

For example, here’s a screen shot of a random Jewish second cousin match – 298 cM total, divided into 12 segments, with a longest segment of 58 cM,

A second Jewish 2C with 323 cM total, across 19 segments, with a 69 cM longest block.

A fully Acadian 2C match with 600 cM total, across 27 segments, with a longest segment of 69 cM.

A second Acadian 2C with 332 cM total, across 20 segments, with a longest segment of 42 cM.

Next, a non-endogamous 2C match with 217 cM, across 7 segments, with a longest segment of 72 cM.

Here’s another non-endogamous 2C example, with 169 shared cM, across 6 segments, with a longest segment of 70 cM.

Here’s the second cousin data in a summary table. The take-away from this is the proportion of total segments

Tester Population Total cM Longest Block Total Segments
Jewish 2C 298 58 12
Jewish 2C 323 69 19
Acadian 2C 600 69 27
Acadian 2C 332 42 20
Non-endogamous 2C 217 72 7
Non-endogamous 2C 169 70 6

You can see more examples and comparisons between Native American, Jewish and non-endogamous DNA individuals in the article, Concepts – Endogamy and DNA Segments.

I suspect that a savvy mathematician could predict endogamy based on longest block and total segment information.

Lara Diamond, a mathematician, who writes at Lara’s Jewnealogy might be up for this challenge. She just published compiled matching and segment information in her Ashkenazic Shared DNA Survey Results for those who are interested. You can also contribute to Laura’s data, here.

Endogamy, Segments, and Distant Relationships

While not relevant to searching for close relatives, heavily endogamous matches 3C and more distant, to quote one of my Jewish friends, “dissolve into a quagmire of endogamy and are exceedingly difficult to unravel.”

In my own Acadian endogamous line, I often simply have to label them “Acadian” because the DNA tracks back to so many ancestors in different lines. In other words, I can’t tell which ancestor the match is actually pointing to because the same DNA segments or segments is/are carried by several ancestors and their descendants due to founder effect.

The difference with the Acadians is that we can actually identify many or most of them, at least at some point in time. As my cousin, Paul LeBlanc, once said, if you’re related to one Acadian, you’re related to all Acadians. Then he proceeded to tell me that he and I are related 137 different ways. My head hurts!

It’s no wonder that endogamy is incredibly difficult beyond the first few generations when it turns into something like multi-colored jello soup.

“Are Your Parents Related?” Tool

There’s another tool that you can utilize to determine if your parents are related to each other.

To determine if your parents are related to each other, you need to know about ROH, or Runs of Homozygosity (ROH).

ROH means that the DNA on both strands or copies of the same chromosome is identical.

For a few locations in a row, ROH can easily happen just by chance, but the longer the segment, the less likely that commonality occurs simply by chance.

The good news is that you don’t need to know the identity of either of your parents. You don’t need either of your parent’s DNA tests – just your own. You’ll need to upload your DNA file to GEDmatch, which is free.

Click on “Are your parents related?”

GEDMatch analyzes your DNA to see if any of your DNA, above a reasonable matching threshold, is identical on both strands, indicating that you inherited the exact same DNA from both of your parents.

A legitimate match, meaning one that’s not by chance, will include many contiguous matching locations, generally a minimum of 500 SNPs or locations in a row. GEDmatch’s minimum threshold for identifying identical ancestral DNA (ROH) is 200 cM.

Here’s my result, including the graphic for the first two chromosomes. Notice the tiny green bars that show identical by chance tiny sliver segments.

I have no significant identical DNA, meaning my parents are not related to each other.

Next, let’s look at an endogamous example where there are small, completely identical segments across a person’s chromosome

This person’s Acadian parents are related to each other, but distantly.

Next, let’s look at a Jewish person’s results.

You’ll notice larger green matching ROH, but not over 200 contiguous SNPs and 7 cM.

GEDMatch reports that this Jewish person’s parents are probably not related within recent generations, but it’s clear that they do share DNA in common.

People whose parents are distantly related have relatively small, scattered matching segments. However, if you’re seeing larger ROH segments that would be large enough to match in a genealogical setting, meaning multiple greater than 7 cM and 500 SNPs,, you may be dealing with a different type of situation where cousins have married in recent generations. The larger the matching segments, generally, the closer in time.

Blogger Kitty Cooper wrote an article, here, about discovering that your parents are related at the first cousin level, and what their GEDMatch “Are Your Parents Related” results look like.

Let’s look for more clues.

Surnames

There MAY be an endogamy clue in the surnames of the people you match.

Viewing surnames is easier if you download your match list, which you can do at every vendor except Ancestry. I’m not referring to the segment data, but the information about your matches themselves.

I provided instructions in the recent article, How to Download Your DNA Match Lists and Segment Files, here.

If you suspect endogamy for any reason, look at your closest matches and see if there is a discernable trend in the surnames, or locations, or any commonality between your matches to each other.

For example, Jewish, Acadian, and Native surnames may be recognizable, as may locations.

You can evaluate in either or both of two ways:

  • The surnames of your closest matches. Closest matches listed first will be your default match order.
  • Your most frequently occurring surnames, minus extremely common names like Smith, Jones, etc., unless they are also in your closest matches. To utilize this type of matching, sort the spreadsheet in surname order and then scan or count the number of people with each surname.

Here are some examples from our testers.

Jewish – Closest surname matches.

  • Roth
  • Weiss
  • Goldman
  • Schonwald
  • Levi
  • Cohen
  • Slavin
  • Goodman
  • Sender
  • Trebatch

Acadian – Closest surname matches.

  • Bergeron
  • Hebert
  • Bergeron
  • Marcum
  • Muise
  • Legere
  • Gaudet
  • Perry
  • Verlander
  • Trombley

Native American – Closest surname matches.

  • Ortega
  • Begay
  • Valentine
  • Hayes
  • Montoya
  • Sun Bear
  • Martin
  • Tsosie
  • Chiquito
  • Yazzie

You may recognize these categories of surnames immediately.

If not, Google is your friend. Eliminate common surnames, then Google for a few together at a time and see what emerges.

The most unusual surnames are likely your best bets.

Projects

Another way to get some idea of what groups people with these surnames might belong to is to enter the surname in the FamilyTreeDNA surname search.

Go to the main FamilyTreeDNA page, but DO NOT sign on.

Scroll down until you see this image.

Type the surname into the search box. You’ll see how many people have tested with that surname, along with projects where project administrators have included that surname indicating that the project may be of interest to at least some people with that surname.

Here’s a portion of the project list for Cohen, a traditional Jewish surname.

These results are for Muise, an Acadian surname.

Clicking through to relevant surname projects, and potentially contacting the volunteer project administrator can go a very long way in helping you gather and sift information. Clearly, they have an interest in this topic.

For example, here’s the Muise surname in the Acadian AmerIndian project. Two great hints here – Acadian heritage and Halifax, Nova Scotia.

Repeat for the balance of surnames on your list to look for commonalities, including locations on the public project pages.

Locations

Some of the vendor match files include location information. Each person on your match list will have the opportunity at the vendor where they tested to include location information in a variety of ways, either for their ancestors or themselves.

Where possible, it’s easiest to sort or scan the download file for this type of information.

Ancestry does not provide or facilitate a match list, but you can still create your own for your closest 20 or 30 matches in a spreadsheet.

MyHeritage provides common surname and ancestral location information for every match. How cool is that!

Y DNA, Mitochondrial DNA, and Endogamy

Haplogroups for both Y and mitochondrial DNA can indicate and sometimes confirm endogamy. In other cases, the haplogroup won’t help, but the matches and their location information just might.

FamilyTreeDNA is the only vendor that provides Y DNA and mitochondrial DNA tests that include highly granular haplogroups along with matches and additional tools.

23andMe provides high-level haplogroups which may or may not be adequate to pinpoint a haplogroup that indicates endogamy.

Of course, only males carry Y DNA that tracks to the direct paternal (surname) line, but everyone carries their mother’s mitochondrial DNA that represents their mother’s mother’s mother’s, or direct matrilineal line.

Some haplogroups are known to be closely associated with particular ethnicities or populations, like Native Americans, Pacific Islanders, and some Jewish people.

Haplogroups reach back in time before genealogy and can give us a sense of community that’s not available by either looking in the mirror or through traditional records.

This Native American man is a member of high-level haplogroup Q-M242. However, some men who carry this haplogroup are not Native, but are of European or Middle Eastern origin.

I entered the haplogroup in the FamilyTreeDNA Discover tool, which I wrote about, here.

Checking the information about this haplogroup reveals that their common ancestor descended from an Asian man about 30,000 years ago.

The migration path in the Americans explains why this person would have an endogamous heritage.

Our tester would receive a much more refined haplogroup if he upgraded to the Big Y test at FamilyTreeDNA, which would remove all doubt.

However, even without additional testing, information about his matches at FamilyTreeDNA may be very illuminating.

The Q-M242 Native man’s Y DNA matches men with more granular haplogroups, shown above, at left. On the Haplogroup Origins report, you can see that these people have all selected the “US (Native American)” country option.

Another useful tool would be to check the public Y haplotree, here, and the public mitochondrial tree here, for self-reported ancestor location information for a specific haplogroup.

Here’s an example of mitochondrial haplogroup A2 and a few subclades on the public mitochondrial tree. You can see that the haplogroup is found in Mexico, the US (Native,) Canada, and many additional Caribbean, South, and Central American countries.

Of course, Y DNA and mitochondrial DNA (mtDNA) tell a laser-focused story of one specific line, each. The great news, if you’re seeking information about your mother or father, the Y is your father’s direct paternal (surname) line, and mitochondrial is your mother’s direct matrilineal line.

Y and mitochondrial DNA results combined with ethnicity, autosomal matching, and the wide range of other tools that open doors, you will be able to reveal a great deal of information about whether you have endogamous heritage or not – and if so, from where.

I’ve provided a resource for stepping through and interpreting your Y DNA results, here, and mitochondrial DNA, here.

Discover for Y DNA Only

If you’re a female, you may feel left out of Y DNA testing and what it can tell you about your heritage. However, there’s a back door.

You can utilize the Y DNA haplogroups of your closest autosomal matches at both FamilyTreeDNA and 23andMe to reveal information

Haplogroup information is available in the download files for both vendors, in addition to the Family Finder table view, below, at FamilyTreeDNA, or on your individual matches profile cards at both 23andMe and FamilyTreeDNA.

You can enter any Y DNA haplogroup in the FamilyTreeDNA Discover tool, here.

You’ll be treated to:

  • Your Haplogroup Story – how many testers have this haplogroup (so far), where the haplogroup is from, and the haplogroup’s age. In this case, the haplogroup was born in the Netherlands about 250 years ago, give or take 200 years. I know that it was 1806 or earlier based on the common ancestor of the men who tested.
  • Country Frequency – heat map of where the haplogroup is found in the world.
  • Notable Connections – famous and infamous (this haplogroup’s closest notable person is Leo Tolstoy).
  • Migration Map – migration path out of Africa and through the rest of the world.
  • Ancient Connections – ancient burials. His closest ancient match is from about 1000 years ago in Ukraine. Their shared ancestor lived about 2000 years ago.
  • Suggested Projects – based on the surname, projects that other matches have joined, and haplogroups.
  • Scientific Details – age estimates, confidence intervals, graphs, and the mutations that define this haplogroup.

I wrote about the Discover tool in the article, FamilyTreeDNA DISCOVER Launches – Including Y DNA Haplogroup Ages.

Endogamy Tools Summary Tables

Endogamy is a tough nut sometimes, especially if you’re starting from scratch. In order to make this topic a bit easier and to create a reference tool for you, I’ve created three summary tables.

  • Various endogamy-related tools available at each vendor which will or may assist with evaluating endogamy
  • Tools and their ability to detect endogamy in different groups
  • Tools best suited to assist people seeking information about unknown parents or grandparents

Summary of Endogamy Tools by Vendor

Please note that GEDMatch is not a DNA testing vendor, but they accept uploads and do have some tools that the testing vendors do not.

 Tool 23andMe Ancestry FamilyTreeDNA MyHeritage GEDMatch
Ethnicity Yes Yes Yes Yes Use the vendors
Ethnicity Painting Yes + segments Yes, limited Yes + segments Yes
Ethnicity Phasing Yes Partial Yes No
DNA Communities No Yes No No
Genetic Groups No No No Yes
Family Matching aka Bucketing No No Yes No
Chromosome Browser Yes No Yes Yes Yes
AutoClusters Through Genetic Affairs No Through Genetic Affairs Yes, included Yes, with subscription
Match List Download Yes, restricted # of matches No Yes Yes Yes
Projects No No Yes No
Y DNA High-level haplogroup only No Yes, full haplogroup with Big Y, matching, tools, Discover No
Mitochondrial DNA High-level haplogroup only No Yes, full haplogroup with mtFull, matching, tools No
Public Y Tree No No Yes No
Public Mito Tree No No Yes No
Discover Y DNA – public No No Yes No
ROH No No No No Yes

Summary of Endogamous Populations Identified by Each Tool

The following chart provides a guideline for which tools are useful for the following types of endogamous groups. Bolded tools require that both parents be descended from the same endogamous group, but several other tools give more definitive results with higher amounts of endogamy.

Y and mitochondrial DNA testing are not affected by admixture, autosomal DNA or anything from the “other” parent.

Tool Jewish Acadian Anabaptist Native Other/General
Ethnicity Yes No No Yes Pacific Islander
Ethnicity Painting Yes No No Yes Pacific Islander
Ethnicity Phasing Yes, if different No No Yes, if different Pacific Islander, if different
DNA Communities Yes Possibly Possibly Yes Pacific Islander
Genetic Groups Yes Possibly Possibly Yes Pacific Islander
Family Matching aka Bucketing Yes Yes Possibly Yes Pacific Islander
Chromosome Browser Possibly Possibly Yes, once segments or ancestors identified Possibly Pacific Islander, possibly
Total Matches Yes, compared to non-endogamous No No No No, unknown
AutoClusters Yes Yes Uncertain, probably Yes Pacific Islander
Estimated Relationships High Not always Sometimes No Sometimes Uncertain, probably
Relationship Range High Possibly, sometimes Possibly Possibly Possibly Pacific Islander, possibly
More, Smaller Segments Yes Yes Probably Yes Pacific Islander, probably
Parents Related Some but minimal Possibly Uncertain Probably similar to Jewish Uncertain, Possibly
Surnames Probably Probably Probably Not Possibly Possibly
Locations Possibly Probably Probably Not Probably Probably Pacific Islander
Projects Probably Probably Possibly Possibly Probably Pacific Islander
Y DNA Yes, often Yes, often No Yes Pacific Islander
Mitochondrial DNA Yes, often Sometimes No Yes Pacific Islander
Y public tree Probably not alone No No Yes Pacific Islander
MtDNA public tree Probably not No No Yes Pacific Islander
Y DNA Discover Yes Possibly Probably not, maybe projects Yes Pacific Islander

Summary of Endogamy Tools to Assist People Seeking Unknown Parents and Grandparents

This table provides a summary of when each of the various tools can be useful to:

  • People seeking unknown close relatives
  • People who already know who their close relatives are, but are seeking additional information or clues about their genealogy

I considered rating these on a 1 to 10 scale, but the relative usefulness of these tools is dependent on many factors, so different tools will be more or less useful to different people.

For example, ethnicity is very useful if someone is admixed from different populations, or even 100% of a specific endogamous population. It’s less useful if the tester is 100% European, regardless of whether they are seeking close relatives or not. Conversely, even “vanilla” ethnicity can be used to rule out majority or recent admixture with many populations.

Tools Unknown Close Relative Seekers Known Close Relatives – Enhance Genealogy
Ethnicity Yes, to identify or rule out populations Yes
Ethnicity Painting Yes, possibly, depending on population Yes, possibly, depending on population
Ethnicity Phasing Yes, possibly, depending on population Yes, possibly, depending on population
DNA Communities Yes, possibly, depending on population Yes, possibly, depending on population
Genetic Groups Possibly, depending on population Possibly, depending on population
Family Matching aka Bucketing Not if parents are entirely unknown, but yes if one parent is known Yes
Chromosome Browser Unlikely Yes
AutoClusters Yes Yes, especially at MyHeritage if Jewish
Estimated Relationships High Not No
Relationship Range High Not reliably No
More, Smaller Segments Unlikely Unlikely other than confirmation
Match List Download Yes Yes
Surnames Yes Yes
Locations Yes Yes
Projects Yes Yes
Y DNA Yes, males only, direct paternal line, identifies surname lineage Yes, males only, direct paternal line, identifies and correctly places surname lineage
Mitochondrial DNA Yes, both sexes, direct matrilineal line only Yes, both sexes, direct matrilineal line only
Public Y Tree Yes for locations Yes for locations
Public Mito Tree Yes for locations Yes for locations
Discover Y DNA Yes, for heritage information Yes, for heritage information
Parents Related – ROH Possibly Less useful

Acknowledgments

A HUGE thank you to several people who contributed images and information in order to provide accurate and expanded information on the topic of endogamy. Many did not want to be mentioned by name, but you know who you are!!!

If you have information to add, please post in the comments.

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In Search of…Vendor Features, Strengths, and Testing Strategies

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8

This is the third in our series of articles about searching for unknown close family members, specifically; parents, grandparents, or siblings. However, these same techniques can be applied to ancestors further back in time too.

In this article, we are going to discuss your goals and why testing or uploading to multiple vendors is advantageous – even if you could potentially solve the initial mystery at one vendor. Of course, the vendor you test with first might not be the vendor where the mystery will be solved, and data from multiple vendors might just be the combination you need.

Testing Strategy – You Might Get Lucky

I recommended in the first article that you go ahead and test at the different vendors.

Some people asked why, and specifically, why you wouldn’t just test at one vendor with the largest database first, then proceed to the others if you needed to.

That’s a great question, and I want to discuss the pros and cons in this article more specifically.

Clearly, that is one strategy, but the approach you select might differ based on a variety of considerations:

  • You may only be interested in obtaining the name of the person you are seeking – or – you may be interested in finding out as much as possible.
  • You may find that your best match at one company is decidedly unhelpful, and may even block you or your efforts, while someone elsewhere may be exactly the opposite.
  • Solving your mystery may be difficult and painful at one vendor, but the answer may be infinitely easier at a different vendor where the answer may literally be waiting.
  • There may not be enough, or the right information, or matches, at any one vendor, but the puzzle may be solvable by combining information from multiple vendors and tests. Every little bit helps.
  • You may have a sense of urgency, especially if you hope to meet the person and you’re searching for parents, siblings or grandparents who may be aging.
  • You may be cost-sensitive and cannot afford more than one test at a time. Fortunately, our upload strategy helps with that too. Also, watch for vendor sales or bundles.

From the time you order your DNA test, it will be about 6-8 weeks, give or take a week or two in either direction, before you receive results.

When those results arrive, you might get lucky, and the answer you seek is immediately evident with no additional work and just waiting for you at the first testing company.

If that’s the case, you got lucky and hit the jackpot. If you’re searching for both parents, that means you still have one parent to go.

Unidentified grandparents can be a little more difficult, because there are four of them to sort between.

If you discover a sibling or half-sibling, you still need to figure out who your common parent is. Sometimes X, Y, and mitochondrial DNA provides an immediate answer and is invaluable in these situations.

It’s more likely that you’ll find a group of somewhat more distant relatives. You may be able to figure out who your common grandparents or great-grandparents are, but not your parent(s) initially. Often, the closer generation or two is actually the most difficult because you’re dealing with contemporary records which are not publicly available, fewer descendants, and the topic may be very uncomfortable for some people. It’s also complicated because you’re often not dealing with “full” relationships, but “half,” as in half-sibling, half-niece, half-1C, etc.

You may spend a substantial amount of time trying to solve this puzzle at the first vendor before ordering your next test.

That second test will also take about 6-8 weeks, give or take. I recommend that you order the first two autosomal tests, now.

Order Your First Two Autosomal Tests

The two testing companies with the largest autosomal databases for comparison, Ancestry, and 23andMe, DO NOT accept DNA file uploads from other companies, so you’ll need to test with each individually.

Fortunately, you CAN transfer your autosomal DNA tests to both MyHeritage and FamilyTreeDNA, for free.

You will have different matches at each company. Some people will be far more responsive and helpful than others.

I recommend that you go ahead and order both the Ancestry and 23andMe tests initially, then upload the first one that comes back with results to both FamilyTreeDNA and MyHeritage. Complete, step-by-step download/upload instructions can be found here.

You can also upload your DNA file to a fifth company, Living DNA, but they are significantly smaller and heavily focused on England and Great Britain. However, if that’s where you’re searching, this might be where you find important matches.

You can also upload to GEDMatch, a popular third-party database, but since you’re going to be in the databases of the four major testing companies, there is little to be gained at GEDMatch in terms of people who have not tested at one of the major companies. Do NOT upload to GEDMatch INSTEAD of testing or uploading to the four major sites, as GEDMatch only has a small fraction of the testers in each of the vendor databases.

What GEDMatch does offer is a chromosome browser – something that Ancestry does NOT offer, along with other clustering tools which you may find useful. I recommend GEDMatch in addition to the others, if needed or desired.

Ordering Y and Mitochondrial DNA Tests

We reviewed the basics of the different kinds of DNA, here.

Some people have asked why, if autosomal DNA shows relatives on all of your lines, would one would want to order specific tests that focus on just one line?

It just so happens that the two lines that Y and mitochondrial DNA test ARE the two lines you’re seeking – direct maternal – your mother (and her mother), and direct paternal, your father (and his father.)

These two tests are different kinds of DNA tests, testing a different type of DNA, and provide very focused information, and matches, not available from autosomal DNA tests.

For men, Y DNA can reveal your father’s surname, which can be an invaluable clue in narrowing paternal candidates. Knowing that my brother’s Y DNA matched several men with the surname of Priest made me jump for joy when he matched a woman of that same last name at another vendor.

Here’s a quote from one of the members of a Y DNA project where I’m the volunteer administrator:

“Thank you for your help understanding and using all 4 kinds of my DNA results. By piecing the parts together, I identified my father. Specifically, without Y DNA testing, and the Big Y test, I would not have figured out my parental connection, and then that my paternal line had been assigned to the wrong family. STR testing gave me the correct surname, but the Big Y test showed me exactly where I fit, and disproved that other line. I’m now in touch with my father, and we both know who our relatives are – two things that would have never happened otherwise.”

If you fall into the category of, “I want to know everything I can now,” then order both Y and mitochondrial DNA tests initially, along with those two autosomal tests.

You will need to order Y (males only) and mitochondrial DNA tests separately from the autosomal Family Finder test, although you should order on the same account as your Family Finder test at FamilyTreeDNA.

If you take the Family Finder autosomal test at FamilyTreeDNA or upload your autosomal results from another vendor, you can simply select to add the Y and mitochondrial DNA tests to your account, and they will send you a swab kit.

Conversely, you can order either a Y or mitochondrial DNA test, and then add a Family Finder or upload a DNA file if you’ve already taken an autosomal DNA test to that account too. Note – these might not be current prices – check here for sales.

You will want all 3 of your tests on the same account so that you can use the Advanced Matches feature.

Using Advanced Matches, you’ll be able to view people who match you on combinations of multiple kinds of tests.

For example, if you’re a male, you can see if your Y DNA matches also match you on the Family Finder autosomal test, and if so, how closely?

Here’s an example.

In this case, I requested matches to men with 111 markers who also match the tester on the Family Finder test. I discovered both a father and a full sibling, plus a few more distant matches. There were ten total combined matches to work with, but I’ve only shown five for illustration purposes.

This information is worth its weight in gold.

Is the Big Y Test Worth It?

People ask if the Big Y test is really worth the extra money.

The answer is, “it depends.”

If all you’re looking for are matching surnames, then the answer is probably no. A 37 or 111 marker test will probably suffice. Eventually, you’ll probably want to do the Big Y, though.

If you’re looking for exact placement on the tree, with an estimated distance to other men who have taken that test, then the answer is, “absolutely.” I wish the Big Y test had been available back when I was hunting for my brother’s biological family.

The Big Y test provides a VERY specific haplogroup and places you very accurately in your location on the Y DNA tree, along with other men of your line, assuming they have tested. You may find the surname, as well as being placed within a generation or a few of current in that family line.

Additionally, the Discover page provides estimates of how far in the past you share a common ancestor with other people that share the same haplogroup. This can be a HUGE boon to a male trying to figure out his surname line and how closely in time he’s related to his matches.

Big Y NPE Examples

Y DNA SNP mutations tested with the Big Y test accrue a mutation about every generation, or so. Sometimes we see mutations in every generation.

Here’s an example from my Campbell line. Haplogroups are listed in the top three rows.

I created this spreadsheet, but FamilyTreeDNA provides a block tree for Big Y testers. I’ve added the genealogy of the testers, with the various Big Y testers at the bottom and common ancestors above, in bold.

We have two red NPE lines showing. The MacFarlane tester matches M. Campbell VERY closely, and two Clark males match W. Campbell and other Campbells quite closely. We utilized autosomal plus the Y results to determine where the unknown parentage events occurred. Today, if you’re a Clark or MacFarlane male, or a male by any other surname who was fathered by a Y chromosome Campbell male (by any surname), you’ll know exactly where you fit in this group of testers on your direct paternal line.

Y DNA is important because men often match other men with the same surname, which is a HUGE clue, especially in combination with autosomal DNA results. I say “often,” because it’s possible that no one in your line has tested, or that your father’s surname is not his biological surname either.

Y and mitochondrial DNA matches can be HUGELY beneficial pieces of information either by confirming a close autosomal relationship on that line, or eliminating the possibility.

Lineage-Specific Population Information

In addition to matching other people, both Y and mitochondrial DNA tests provide you with lineage-specific population or “ethnicity” information for this specific line which helps you focus your research.

For example, if you view the Y DNA Haplogroup Origins shown for this tester, you’ll discover that these matches are Jewish.

The tester might not be Jewish on any other genealogical line, but they definitely have Jewish ancestry on their Y DNA, paternal, line.

The same holds true for mitochondrial DNA as well. The main difference with mitochondrial DNA is that the surname changes with each generation, haplogroups today (pre-Million Mito) are less specific, and fewer people have been tested.

Y and Mitochondrial DNA Benefits

Knowing your Y and mitochondrial DNA haplogroups not only arm you with information about yourself, they provide you with matching tools and an avenue to include or exclude people as your direct line paternal or maternal ancestors.

Your Y and mitochondrial DNA can also provide CRITICALLY IMPORTANT information about whether that direct line ancestor belonged to an endogamous population, and where they came from.

For example, both Jewish and Native populations are endogamous populations, meaning highly intermarried for many generations into the past.

Knowing that helps you adjust your autosomal relationship analysis.

Why Order Multiple Tests Initially Instead of Waiting?

If you’ve been adding elapsed time, two autosomal tests (Ancestry and 23andMe), two uploads (to FamilyTreeDNA and MyHeritage,) a Y DNA test, and a mitochondrial DNA test, if all purchased serially, one following the other, means you’ll be waiting approximately 6-8 months.

Do you want to wait 6-8 months for all of your results? Can you afford to?

Part of this answer has to do with what, exactly, you’re seeking, and how patient you are.

Only you can answer that question.

A Name or Information?

Are you seeking the name or identity of a person, or are you seeking information about that person?

Most people don’t just want to put a name to the person they are seeking – they want to learn about them and the rest of the family that door opens.

You will have different matches at each company. Even after you identify the person you seek, the people you match may have trees you can view, with family photos and other important information. (Remember, you can’t see living people in trees.) Your matches may have first-person information about your relative and may know them if they are living, or have known them.

Furthermore, you may have the opportunity to meet that person. Time delayed may not be able to be recovered or regained.

One cousin that I assisted discovered that his father had died just six weeks before he broke through that wall and made the connection.

Working with data from all vendors simultaneously will allow you to combine that data and utilize it together. Using your “best” matches at each company, augmented by X, Y, and/or mitochondrial DNA, can make MUCH shorter work of this search.

Your closest autosomal matches are the most important and insightful. In this series, I will be working with the top 15 autosomal results at each vendor, at least initially. This approach provides me with the best chance of meaningful close relationship discoveries.

Data and Vendor Results Integration

Here’s a table of my two closest maternal and paternal matches at the four major vendors. I can assign these to maternal or paternal sides, because I know the identity of my parents, and I know some of these people. If an adoptee was doing this, the top 4 could all be from one parent, which is why we work with the top 15 or so matches.

Vendor Closest Maternal Closest Paternal Comments
Ancestry 1C, 1C1R Half-1C, 2C I recognized both of the maternal and neither of the paternal.
23andMe 2C, 2C 1C1R, half-gr-niece Recognized both maternal, one paternal
MyHeritage Mother uploaded, 1C Half-niece, half-1C Recognized both maternal, one paternal
FamilyTreeDNA Mother tested, 1C1R Parent/child, half-gr-niece uploaded Recognized all 4

To be clear, I tested my mother’s mitochondrial DNA before she passed away, but because FamilyTreeDNA archives DNA samples for 25 years, as the owner/manager of her DNA kit, I was able to order the Family Finder test after she had passed away. Her tests are invaluable today.

Then, years later, I uploaded her results to MyHeritage.

If I was an adopted child searching for my mother, I would find her results in both databases today. She’ll never be at either 23andMe or Ancestry because she passed away before she could test there and they don’t accept uploads.

Looking at the other vendors, my half-niece at MyHeritage is my paternal half-sibling’s daughter. My half-sibling is deceased, so this is as close as I’ll ever get to matching her.

At 23andMe, the half-great-niece is my half-siblings grandchild.

It’s interesting that I have no matches to descendants of my other half-sibling, who is also deceased. Maybe I should ask if any of his children or grandchildren have tested. Hmmmm…..

You can see that I stand a MUCH BETTER chance of figuring out close relatives using the combined closest matches of all four databases instead of the top matches from just one database. It doesn’t matter if the database is large if the right person or people didn’t test there.

Combine Resources

I’ll be providing analysis methodologies for working with results from all of the vendors together, just in case your answer is not immediately obvious. Taking multiple DNA tests facilitates using all of these tools immediately, not months later. Solving the puzzle sooner means you may not miss valuable opportunities.

You may also discover that the door slams shut with some people, or they may not respond to your queries, but another match may be unbelievably helpful. Don’t limit your possibilities.

Let’s take a look at the strengths of each vendor.

Vendor Strengths and Things to Know

Every vendor has product strengths and idiosyncracies that the others do not. All vendors provide matches and shared matches. Each vendor provides ethnicity tools which certainly can be useful, but the features differ and will be covered elsewhere.

  • Ancestry – Ancestry has the largest autosomal database and includes ThruLines, but no Y or mitochondrial DNA testing, no clusters, no chromosome browser, no triangulation, and no X chromosome matching or reporting. Ancestry provides genealogical records, advanced tools, and full tree access to your matches’ trees with an Ancestry subscription. Ancestry does not allow downloading your match list or segment match information, but the other vendors do.
  • 23andMe – 23andMe has the second largest database. They provide triangulation and genetic trees that include your closest matches. Many people test at 23andMe for health and wellness information, so 23andMe has people in their database who are not specifically interested in genealogy and probably won’t have tested elsewhere, but may be invaluable to your search. 23andMe provides Y and mtDNA high-level haplogroups only, but no matching or other haplogroup information. If you purchase a new test or have a V5 ancestry+health current test, you can expand your matches from a limit of 1500 to about 5000 with an annual membership. For seeking close relatives, you don’t need those features, but you may want them for genealogy. 23andMe is the only vendor that limits their customers’ matches.
  • MyHeritage – MyHeritage has the third largest database that includes lots of European testers. MyHeritage provides triangulation, Theories of Family Relativity, and an integrated cluster tool* but does not report X matches and does not offer Y or mitochondrial DNA testing. MyHeritage accepts autosomal DNA file uploads from other testing companies for free and provides access to advanced DNA features for a one-time unlock fee. MyHeritage includes genealogical records and full feature access to advanced DNA tools with a Complete Subscription. (Free 15 days trial subscription, here.)
  • FamilyTreeDNA Family Finder (autosomal) – FamilyTreeDNA is the oldest DNA testing company, meaning their database includes people who initially tested 20+ years ago and have since passed away. This, in essence, gets you one generation further back in time, with the possibility of stronger matches. Their Family Matching feature buckets and triangulates your matches, assigning them to your maternal or paternal sides if you link known matches to their proper place in your tree, even if your parents have not tested. FamilyTreeDNA accepts uploads from other testing companies for free and provides advanced DNA features for a one time unlock fee.
  • FamilyTreeDNA – FamilyTreeDNA is the only company that offers both Y and mitochondrial DNA testing products that include matching, integration with autosomal test results, and other tools. These two tests are lineage-specific and don’t have to be sorted from your other ancestral lines.

I wrote about using Y DNA results, here.

I wrote about using mitochondrial DNA results, here.

*Third parties such as Genetic Affairs provide clustering tools for both 23andMe and FamilyTreeDNA. Clustering is integrated at MyHeritage. Ancestry does not provide a tool for nor allow third-party clustering. If the answer you seek isn’t immediately evident, Genetic Affairs clustering tools group people together who are related to each other, and you, and create both genetic and genealogical trees based on shared matches. You can read more about their tools, here.

Fish in all the Ponds and Use All the Bait Possible

Here’s the testing and upload strategy I recommend, based on the above discussion and considerations. The bottom line is this – if you want as much information as possible, as quickly as possible, order the four tests in red initially. Then transfer the first autosomal test results you receive to the two companies identified in blue. Optionally, GEDMatch may have tools you want to work with, but they aren’t a testing company.

What When Ancestry 23andMe MyHeritage FamilyTreeDNA
Order autosomal Initially X X    
Order Y 111 or Big-Y DNA test if male Initially       X
Order mitochondrial DNA test Initially if desired       X
Upload free autosomal When Ancestry or 23andMe results are available     X X
Unlock Advanced Tools When you upload     $29 $19
Optional GEDMatch free upload If desired, can subscribe for advanced tools

When you upload an autosomal DNA file to a vendor site, only upload one file per site, per tester. Otherwise, multiple tests simply glom up everyone’s match list with multiple matches to the same person.

Multiple vendor sites will hopefully provide multiple close matches, which increase your opportunity to discover INFORMATION about your family, not just the identity of the person you seek.

Or maybe you prefer to wait and order these DNA tests serially, waiting until one set of results is back and you’re finished working with them before ordering the next one. If so, that means you’re a MUCH more patient person than me. 😊

Our next article in this series will be about endogamy, how to know if it applies to you, and what that means to your search.

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Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links

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The official dates of RootsTech 2022 were March 3-5, but the sessions and content in the vendor booths are still available. I’ve compiled a list of the sessions focused on DNA, with web links on the RootsTech YouTube channel

YouTube reports the number of views, so I was able to compile that information as of March 8, 2022.

I do want to explain a couple of things to add context to the numbers.

Most speakers recorded their sessions, but a few offered live sessions which were recorded, then posted later for participants to view. However, there have been glitches in that process. While the sessions were anticipated to be available an hour or so later, that didn’t quite happen, and a couple still aren’t posted. I’m sure the presenters are distressed by this, so be sure to watch those when they are up and running.

The Zoom rooms where participants gathered for the live sessions were restricted to 500 attendees. The YouTube number of views does not include the number of live viewers, so you’ll need to add an additional number, up to 500.

When you see a number before the session name, whether recorded or live, that means that the session is part of a series. RootsTech required speakers to divide longer sessions into a series of shorter sessions no longer than 15-20 minutes each. The goal was for viewers to be able to watch the sessions one after the other, as one class, or separately, and still make sense of the content. Let’s just say this was the most challenging thing I’ve ever done as a presenter.

For recorded series sessions, these are posted as 1, 2 and 3, as you can see below with Diahan Southard’s sessions. However, with my live session series, that didn’t happen. It looks like my sessions are a series, but when you watch them, parts 1, 2 and 3 are recorded and presented as one session. Personally, I’m fine with this, because I think the information makes a lot more sense this way. However, it makes comparisons difficult.

This was only the second year for RootsTech to be virtual and the conference is absolutely HUGE, so live and learn. Next year will be smoother and hopefully, at least partially in-person too.

When I “arrived” to present my live session, “Associating Autosomal DNA Segments With Ancestors,” my lovely moderator, Rhett, told me that they were going to livestream my session to the RootsTech page on Facebook as well because they realized that the 500 Zoom seat limit had been a problem the day before with some popular sessions. I have about 9000 views for that session and more than 7,400 of them are on the RootsTech Facebook page – and that was WITHOUT any advance notice or advertising. I know that the Zoom room was full in addition. I felt kind of strange about including my results in the top ten because I had that advantage, but I didn’t know quite how to otherwise count my session. As it turns out, all sessions with more than 1000 views made it into the top ten so mine would have been there one way or another. A big thank you to everyone who watched!

I hope that the RootsTech team notices that the most viewed session is the one that was NOT constrained by the 500-seat limited AND was live-streamed on Facebook. Seems like this might be a great way to increase session views for everyone next year. Hint, hint!!!

I also want to say a huge thank you to all of the presenters for producing outstanding content. The sessions were challenging to find, plus RootsTech is always hectic, even virtually. So, I know a LOT of people will want to view these informative sessions, now that you know where to look and have more time. Please remember to “like” the session on YouTube as a way of thanking your presenter.

With 140 DNA-focused sessions available, you can watch a new session, and put it to use, every other day for the next year! How fun is that! You can use this article as your own playlist.

Please feel free to share this article with your friends and genealogy groups so everyone can learn more about using DNA for genealogy.

Ok, let’s look at the top 10. Drum roll please…

Top 10 Most Viewed RootsTech Sessions

Session Title Presenter YouTube Link Views
1 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

 ~9000: 1019 + 500 live viewers + 7,400+ Facebook
2 1. What to Do with Your DNA Test Results in 2022 (part 1 of 3) Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
3 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
4 2. What to Do with Your DNA Test Results in 2022 (part 2 of 3) Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
5 Latest DNA Painter Releases DNAPainter Jonny Perl (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
6 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
7 3. What to Do with Your DNA Test Results in 2022 (part 3 of 3) Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
8 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
9 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 
10 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers

 

All DNA-Focused Sessions

I know you’ll find LOTS of goodies here. Which ones are your favorites?

  Session Presenter YouTube Link Views
1 Estimating Relationships by Combining DNA from Multiple Siblings Amy Williams https://www.youtube.com/watch?v=xs1U0ohpKSA 201
2 Overview of HAPI-DNA.org Amy Williams https://www.youtube.com/watch?v=FjNiJgWaBeQ 126
3 How do AncestryDNA® Communities help tell your story? | Ancestry® Ancestry https://www.youtube.com/watch?v=EQNpUxonQO4 183

 
4 AncestryDNA® 201 Ancestry – Crista Cowan https://www.youtube.com/watch?v=lbqpnXloM5s

 

 494
5 Genealogy in a Minute: Increase Discoveries by Attaching AncestryDNA® Results to Family Tree Ancestry – Crista Cowan https://www.youtube.com/watch?v=iAqwSCO8Pvw 369
6 AncestryDNA® 101: Beginner’s Guide to AncestryDNA® | Ancestry® Ancestry – Lisa Elzey https://www.youtube.com/watch?v=-N2usCR86sY 909
7 Hidden in Plain Sight: Free People of Color in Your Family Tree Cheri Daniels https://www.youtube.com/watch?v=FUOcdhO3uDM 179
8 Finding Relatives to Prevent Hereditary Cancer ConnectMyVariant – Dr. Brian Shirts https://www.youtube.com/watch?v=LpwLGgEp2IE 63
9 Piling on the chromosomes Debbie Kennett https://www.youtube.com/watch?v=e14lMsS3rcY 465
10 Linking Families With Rare Genetic Condition Using Genealogy Deborah Neklason https://www.youtube.com/watch?v=b94lUfeAw9k 43
11 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
12 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
13 2. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
14 DNA Testing For Family History Diahan Southard https://www.youtube.com/watch?v=kCLuOCC924s 84

 
15 Understanding Your DNA Ethnicity Estimate at 23andMe Diana Elder

 

 https://www.youtube.com/watch?v=xT1OtyvbVHE 66
16 Understanding Your Ethnicity Estimate at FamilyTreeDNA Diana Elder https://www.youtube.com/watch?v=XosjViloVE0 73
17 DNA Monkey Wrenches DNA Monkey Wrenches https://www.youtube.com/watch?v=Thv79pmII5M 245
18 Advanced Features in your Ancestral Tree and Fan Chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=4u5Vf13ZoAc 425
19 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
20 Getting Segment Data from 23andMe DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=8EBRI85P3KQ 134
21 Getting segment data from FamilyTreeDNA DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=rWnxK86a12U 169
22 Getting segment data from Gedmatch DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=WF11HEL8Apk 163
23 Getting segment data from Geneanet DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=eclj8Ap0uK4 38
24 Getting segment data from MyHeritage DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=9rGwOtqbg5E 160
25 Inferred Chromosome Mapping: Maximize your DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
26 Keeping track of your genetic family tree in a fan chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=W3Hcno7en94 806

 
27 Mapping a DNA Match in a Chromosome Map DNAPainter – Jonny Perl https://www.youtube.com/watch?v=A61zQFBWaiY 423
28 Setting up an Ancestral Tree and Fan Chart and Exploring Tree Completeness DNAPainter – Jonny Perl https://www.youtube.com/watch?v=lkJp5Xk1thg 77
29 Using the Shared cM Project Tool to Evaluate DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=vxhn9l3Dxg4 763
30 Your First Chromosome Map: Using your DNA Matches to Link Segments to Ancestors DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
31 DNA Painter for absolute beginners DNAPainter (Jonny Perl) https://www.youtube.com/watch?v=JwUWW4WHwhk 1196
32 Latest DNA Painter Releases DNAPainter (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
33 Unraveling your genealogy with DNA segment networks using AutoSegment from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=rVpsJSqOJZI

 

 162
34 Unraveling your genealogy with genetic networks using AutoCluster Evert-Jan Blom https://www.youtube.com/watch?v=ZTKSz_X7_zs 201

 

 
35 Unraveling your genealogy with reconstructed trees using AutoTree & AutoKinship from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=OmDQoAn9tVw 143
36 Research Like a Pro with DNA – A Genealogist’s Guide to Finding and Confirming Ancestors with DNA Family Locket Genealogists https://www.youtube.com/watch?v=NYpLscJJQyk 183
37 How to Interpret a DNA Network Graph Family Locket Genealogists – Diana Elder https://www.youtube.com/watch?v=i83WRl1uLWY 393
38 Find and Confirm Ancestors with DNA Evidence Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=DGLpV3aNuZI 144
39 How To Make A DNA Network Graph Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=MLm_dVK2kAA 201
40 Create A Family Tree With Your DNA Matches-Use Lucidchart To Create A Picture Worth A Thousand Words Family Locket Genealogists – Robin Wirthlin https://www.youtube.com/watch?v=RlRIzcW-JI4 270
41 Charting Companion 7 – DNA Edition Family Tree Maker https://www.youtube.com/watch?v=k2r9rkk22nU 316

 
42 Family Finder Chromosome Browser: How to Use FamilyTreeDNA https://www.youtube.com/watch?v=w0_tgopBn_o 750

 

 
43 FamilyTreeDNA: 22 Years of Breaking Down Brick Walls FamilyTreeDNA https://www.familysearch.org/rootstech/session/familytreedna-22-years-of-breaking-down-brick-walls Not available
44 Review of Autosomal DNA, Y-DNA, & mtDNA FamilyTreeDNA  – Janine Cloud https://www.youtube.com/watch?v=EJoQVKxgaVY 77
45 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
46 Part 1: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=ra1cjGgvhRw 684

 
47 Part 2: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=CgqcjBD6N8Y

 

 259
48 Big Y-700: A Brief Overview FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=IefUipZcLCQ 96
49 Mitochondrial DNA & The Million Mito Project FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=5Zppv2uAa6I 179
50 Mitochondrial DNA: What is a Heteroplasmy FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=ZeGTyUDKySk 57
51 Y-DNA Big Y: A Lifetime Analysis FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=E6NEU92rpiM 154
52 Y-DNA: How SNPs Are Added to the Y Haplotree FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=CGQaYcroRwY 220
53 Family Finder myOrigins: Beginner’s Guide FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=VrJNpSv8nlA 88
54 Mitochondrial DNA: Matches Map & Results for mtDNA FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=YtA1j01MOvs 190
55 Mitochondrial DNA: mtDNA Mutations Explained FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=awPs0cmZApE 340

 
56 Y-DNA: Haplotree and SNPs Page Overview FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=FOuVhoMD-hw 432
57 Y-DNA: Understanding the Y-STR Results Page FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=gCeZz1rQplI 148
58 Y-DNA: What Is Genetic Distance? FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=qJ6wY6ILhfg 149
59 DNA Tools: myOrigins 3.0 Explained, Part 1 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=ACgY3F4-w78 74

 
60 DNA Tools: myOrigins 3.0 Explained, Part 2 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=h7qU36bIFg0 50
61 DNA Tools: myOrigins 3.0 Explained, Part 3 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=SWlGPm8BGyU 36
62 African American Genealogy Research Tips FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=XdbkM58rXIQ 153

 
63 Connecting With My Ancestors Through Y-DNA FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=xbo1XnLkuQU 200
64 Join The Million Mito Project FamilyTreeDNA (Join link) https://www.familysearch.org/rootstech/session/join-the-million-mito-project link
65 View the World’s Largest mtDNA Haplotree FamilyTreeDNA (Link to mtDNA tree) https://www.familytreedna.com/public/mt-dna-haplotree/L n/a
66 View the World’s Largest Y Haplotree FamilyTreeDNA (Link to Y tree) https://www.familytreedna.com/public/y-dna-haplotree/A link
67 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 
68 DNA Upload: How to Transfer Your Autosomal DNA Data FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=CS-rH_HrGlo 303
69 Family Finder myOrigins: How to Compare Origins With Your DNA Matches FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=7mBmWhM4j9Y 145
70 Join Group Projects at FamilyTreeDNA FamilyTreeDNA link to learning center article) https://www.familysearch.org/rootstech/session/join-group-projects-at-familytreedna link

 
71 Product Demo – Unraveling your genealogy with reconstructed trees using AutoKinship GEDmatch https://www.youtube.com/watch?v=R7_W0FM5U7c 803
72 Towards a Genetic Genealogy Driven Irish Reference Genome Gerard Corcoran https://www.youtube.com/watch?v=6Kx8qeNiVmo 155

 
73 Discovering Biological Origins in Chile With DNA: Simple Triangulation Gonzalo Alexis Luengo Orellana https://www.youtube.com/watch?v=WcVby54Uigc 40
74 Cousin Lynne: An Adoption Story International Association of Jewish Genealogical Societies https://www.youtube.com/watch?v=AptMcV4_B4o 111
75 Using DNA Testing to Uncover Native Ancestry Janine Cloud https://www.youtube.com/watch?v=edzebJXepMA 205
76 1. Forensic Genetic Genealogy Jarrett Ross https://www.youtube.com/watch?v=0euIDZTmx5g 58
77 Reunited and it Feels so Good Jennifer Mendelsohn https://www.youtube.com/watch?v=X-hxjm7grBE 57

 
78 Genealogical Research and DNA Testing: The Perfect Companions Kimberly Brown https://www.youtube.com/watch?v=X82jA3xUVXk 80
79 Finding a Jewish Sperm Donor Kitty Munson Cooper https://www.youtube.com/watch?v=iKRjFfNcpug 164
80 Using DNA in South African Genealogy Linda Farrell https://www.youtube.com/watch?v=HXkbBWmORM0 141
81 Using DNA Group Projects In Your Family History Research Mags Gaulden https://www.youtube.com/watch?v=0tX7QDib4Cw 165
82 2. The Expansion of Genealogy Into Forensics Marybeth Sciaretta https://www.youtube.com/watch?v=HcEO-rMe3Xo 35

 
83 DNA Interest Groups That Keep ’em Coming Back McKell Keeney (live) https://www.youtube.com/watch?v=HFwpmtA_QbE 180 plus live viewers
84 Searching for Close Relatives with Your DNA Results Mckell Keeney (live) https://www.familysearch.org/rootstech/session/searching-for-close-relatives-with-your-dna-results Not yet available
85 Top Ten Reasons To DNA Test For Family History Michelle Leonard https://www.youtube.com/watch?v=1B9hEeu_dic 181
86 Top Tips For Identifying DNA Matches Michelle Leonard https://www.youtube.com/watch?v=-3Oay_btNAI 306
87 Maximising Messages Michelle Patient https://www.youtube.com/watch?v=4TRmn0qzHik 442
88 How to Filter and Sort Your DNA Matches MyHeritage https://www.youtube.com/watch?v=fmIgamFDvc8 88
89 How to Get Started with Your DNA Matches MyHeritage https://www.youtube.com/watch?v=JPOzhTxhU0E 447

 
90 How to Track DNA Kits in MyHeritage` MyHeritage https://www.youtube.com/watch?v=2W0zBbkBJ5w 28

 
91 How to Upload Your DNA Data to MyHeritage MyHeritage https://www.youtube.com/watch?v=nJ4RoZOQafY 82
92 How to Use Genetic Groups MyHeritage https://www.youtube.com/watch?v=PtDAUHN-3-4 62
My Story: Hope MyHeritage https://www.youtube.com/watch?v=qjyggKZEXYA 133
93 MyHeritage Keynote, RootsTech 2022 MyHeritage https://www.familysearch.org/rootstech/session/myheritage-keynote-rootstech-2022 Not available
94 Using Labels to Name Your DNA Match List MyHeritage https://www.youtube.com/watch?v=enJjdw1xlsk 139

 
95 An Introduction to DNA on MyHeritage MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=1I6LHezMkgc 60
96 Using MyHeritage’s Advanced DNA Tools to Shed Light on Your DNA Matches MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=Pez46Xw20b4 110
97 You’ve Got DNA Matches! Now What? MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=gl3UVksA-2E 260
98 My Story: Lizzie and Ayla MyHeritage – Elizbeth Shaltz https://www.youtube.com/watch?v=NQv6C8G39Kw 147
99 My Story: Fernando and Iwen MyHeritage – Fernando Hermansson https://www.youtube.com/watch?v=98-AR0M7fFE 165

 
100 Using the Autocluster and the Chromosome Browser to Explore Your DNA Matches MyHeritage – Gal Zruhen https://www.youtube.com/watch?v=a7aQbfP7lWU 115

 
101 My Story : Kara Ashby Utah Wedding MyHeritage – Kara Ashby https://www.youtube.com/watch?v=Qbr_gg1sDRo 200
102 When Harry Met Dotty – using DNA to break down brick walls Nick David Barratt https://www.youtube.com/watch?v=8SdnLuwWpJs 679
103 How to Add a DNA Match to Airtable Nicole Dyer https://www.youtube.com/watch?v=oKxizWIOKC0 161
104 How to Download DNA Match Lists with DNAGedcom Client Nicole Dyer https://www.youtube.com/watch?v=t9zTWnwl98E 124
105 How to Know if a Matching DNA Segment is Maternal or Paternal Nicole Dyer https://www.youtube.com/watch?v=-zd5iat7pmg 161
106 DNA Basics Part I Centimorgans and Family Relationships Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=SI1yUdnSpHA 372
107 DNA Basics Part II Clustering and Connecting Your DNA Matches Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=ECs4a1hwGcs 333
108 DNA Basics Part III Charting Your DNA Matches to Get Answers Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=qzybjN0JBGY 270
109 2. Using Cluster Auto Painter Patricia Coleman https://www.youtube.com/watch?v=-nfLixwxKN4 691
110 3. Using Online Irish Records Patricia Coleman https://www.youtube.com/watch?v=mZsB0l4z4os 802
111 Exploring Different Types of Clusters Patricia Coleman https://www.youtube.com/watch?v=eEZBFPC8aL4 972

 
112 The Million Mito Project: Growing the Family Tree of Womankind Paul Maier https://www.youtube.com/watch?v=cpctoeKb0Kw 541
113 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
114 Y-DNA and Mitochondrial DNA Testing Plans Paul Woodbury https://www.youtube.com/watch?v=akymSm0QKaY 168
115 Finding Biological Family Price Genealogy https://www.youtube.com/watch?v=4xh-r3hZ6Hw 137
116 What Y-DNA Testing Can Do for You Richard Hill https://www.youtube.com/watch?v=a094YhIY4HU 191
117 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers
118 DNA for Native American Ancestry by Roberta Estes Roberta Estes https://www.youtube.com/watch?v=EbNyXCFfp4M 212
119 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

 ~9000: 1019 + 500 live viewers + 7,400+ Facebook
120 1. What Can I Do With Ancestral DNA Segments? Roberta Estes (live) https://www.youtube.com/watch?v=Suv3l4iZYAQ 325 plus live viewers

 
121 Native American DNA – Ancient and Contemporary Maps Roberta Estes (live) https://www.youtube.com/watch?v=dFTl2vXUz_0 212 plus 483 live viewers

 
122 How Can DNA Enhance My Family History Research? Robin Wirthlin https://www.youtube.com/watch?v=f3KKW-U2P6w 102
123 How to Analyze a DNA Match Robin Wirthlin https://www.youtube.com/watch?v=LTL8NbpROwM 367
124 1. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=AIJyphGEZTA 82

 
125 2. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=VM3MCYM0hkI 72
126 Ask us about DNA Talking Family History (live) https://www.youtube.com/watch?v=kv_RfR6OPpU 96 plus live viewers
127 1. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=WNhErW5UVKU

 

 183
128 2. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=CRpQ8EVOShI 110

 
129 Common Problems When Doing Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=hzFxtBS5a8Y 68
130 Cross Visual Phasing to Go Back Another Generation Tanner Blair Tolman https://www.youtube.com/watch?v=MrrMqhfiwbs 64
131 DNA Basics Tanner Blair Tolman https://www.youtube.com/watch?v=OCMUz-kXNZc 155
132 DNA Painter and Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=2-eh1L4wOmQ 155
133 DNA Painter Part 2: Chromosome Mapping Tanner Blair Tolman https://www.youtube.com/watch?v=zgOJDRG7hJc 172
134 DNA Painter Part 3: The Inferred Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=96ai8nM4lzo

 

 100
135 DNA Painter Part 4: The Distinct Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=Pu-WIEQ_8vc 83
136 DNA Painter Part 5: Ancestral Trees Tanner Blair Tolman https://www.youtube.com/watch?v=dkYDeFLduKA 73
137 Understanding Your DNA Ethnicity Results Tanner Blair Tolman https://www.youtube.com/watch?v=4tAd8jK6Bgw 518
138 What’s New at GEDmatch Tim Janzen https://www.youtube.com/watch?v=AjA59BG_cF4

 

 515
139 What Does it Mean to Have Neanderthal Ancestry? Ugo Perego https://www.youtube.com/watch?v=DshCKDW07so 190
140 Big Y-700 Your DNA Guide https://www.youtube.com/watch?v=rIFC69qswiA 143
141 Next Steps with Your DNA Your DNA Guide – Diahan Southard (live) https://www.familysearch.org/rootstech/session/next-steps-with-your-dna Not yet available

Additions:

142  Adventures of an Amateur Genetic Genealogist – Geoff Nelson https://www.familysearch.org/rootstech/session/adventures-of-an-amateur-genetic-genealogist     291 views

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FamilyTreeDNA Keynote, RootsTech Wrap + Special Show Pricing Still Available

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Am I ever whipped. My two live Sessions that were actually a series of three classes each took place on Friday. Yes, that means I presented 6 sessions on Friday, complete with a couple of Zoom gremlins, of course. It’s the nature of the time we live in.

RootsTech tried something new that they’ve never done before. The Zoom class sessions were restricted to 500 attendees each. RootsTech was concerned about disappointed attendees when the room was full and they couldn’t get in, so we live-streamed three of my sessions to Facebook in addition to the 500 Zoom seats.

As of this evening, 6,800 of you have viewed the Facebook video, “Associating Autosomal DNA Segments With Ancestors.” I’m stunned, and touched. Thank you, thank you. Here’s the Facebook link, and here’s the RootsTech YouTube link.

My afternoon sessions, “What Can I DO With Ancestral DNA Segments?” can be viewed here at RootsTech or here on YouTube.

I must admit, I’m really, REALLY looking forward to being together again because RootsTech without the socializing and in-person Expo Hall just isn’t the same. Still, be sure to take a virtual walk through the Expo Hall, here. There’s lots of content in the vendors” booths and it will remain available for all of 2022, until the beginning of RootsTech 2023..

Between prep for my classes and presenting, I didn’t have a lot of time to watch other sessions, but I was able to catch the FamilyTreeDNA keynote and their 2022 Product Sneak Peek. Both were quite worthwhile.

However, I just realized that FamilyTreeDNA’s special show pricing promo codes are still valid for the next two days.

 Special Prices Are Still Available

Every single test that FamilyTreeDNA offers, including UPGRADES, is on sale right now by using special RootsTech promo codes. These prices are good for two more days, through March 7th, so if you want to purchase a Y DNA test, mitochondrial, or Family Finder autosomal test, or upgrade, click here to see the prices only available at RootsTech (and to you through my blog.) It’s not too late, but it will be soon.

To order, click here to sign on or place your order.

FamilyTreeDNA’s Keynote

FamilyTreeDNA’s keynote was titled FamilyTreeDNA: 22 Years of Breaking Down Brick Walls.

I really enjoyed this session, in part because I’ve been a part of the genetic genealogy revolution and evolution from the beginning. Not only that, but I know every single person they interviewed for this video, and have for years. If you’ve been participating in genetic genealogy for some time, you’ll know many of these people too. For a minute, it was almost as good as visiting in person.

I’m going to share a few highlights from the session, but I’m also going to include information NOT in the video. I was one of the early project administrators, so I’ve been along for the ride for just a few months shy of 22 years.

FamilyTreeDNA was the first US company to enter the DNA testing space, the first to offer Y DNA testing, and the only one of the early companies that remains viable today. FamilyTreeDNA was the result of Bennett Greenspan’s dream – but initially, he was only dreaming small. Just like any other genealogist – he was dreaming about breaking down a brick wall which he explains in the video.

I’m so VERY grateful that Bennett had that dream, and persisted, because it means that now millions of us can do the same – and will into the future.

Bennett tells this better than anyone else, along with his partner, Max Blankfeld.

“Some people were fascinated,” Bennett said.

Yep, that’s for sure! I certainly was.

“Among the first genetic genealogists in the world.”

“Frontier of the genetic genealogy revolution.”

Indeed, we were and still are. Today’s genetic genealogy industry wouldn’t even exist were it not for FamilyTreeDNA and their early testers.

I love Max Blankfeld’s story of their first office, and you will too.

This IS the quintessential story of entrepreneurship.

In 2004, when FamilyTreeDNA was only four years old, they hosted the very first annual international project administrator’s conference. At that time, it was believed that the only people that would be interested in learning at that level and would attend a DNA conference would be project administrators who were managing surname and regional projects. How times have changed! This week at RootsTech, we probably had more people viewing DNA sessions than people that had tested altogether in 2004. I purchased kit number 30,087 on December 28, 2004, and kit 50,000 a year later on New Year’s Eve right at midnight!

In April 2005, Nat Geo partnered with FamilyTreeDNA and founded the Genographic Project which was scheduled to last for 5 years. They were hoping to attract 100,000 people who would be willing to test their DNA to discover their roots – and along with that – our human roots. The Genographic Project would run for an incredible 15 years.

In 2005 when the second Project Administrator’s conference was held at the National Geographic Society headquarters in Washington DC, I don’t think any of us realized the historic nature of the moment we were participating in.

I remember walking from my hotel, ironically named “Helix,” to that iconic building. I had spent my childhood reading those yellow magazines at school and dreaming of far-away places. As an adult, I had been a life-long subscriber. Never, in my wildest dreams did I imagine ever visiting Nat Geo and walking the marble Explorer’s Hall with the portraits of the founders and early explorers hanging above and keeping a watchful eye on us. We would not disappoint them.

That 100,000 participation goal was quickly reached, within weeks, and surpassed, leading us all to walk the road towards the building that housed the Explorer’s Hall, Explorers’ in Residence, and so much more.

We were all explorers, pioneers, adventurers seeking to use the DNA from our ancestors in the past to identify who they were. Using futuristic technology tools like a mirror to look backward into the dim recesses of the past.

The archaeology being unearthed and studied was no longer at the ends of the earth but within our own bodies. The final frontier. Reaching out to explore meant reaching inward, and backward in time, using the most progressive technology of the day.

Most of the administrators in attendance, all volunteers, were on a first-name basis with each other and also with Max, Bennett, and the scientists.

Here, Bennett with a member of the science team from the University of Arizona describes future research goals. Every year FamilyTreeDNA has improved its products in numerous ways.

Today, that small startup business has its own ground-breaking state-of-the-art lab. More than 10,000 DNA projects are still administered by passionate volunteer administrators who focus on what they seek – such as the history of their surname or a specific haplogroup. Their world-class lab allows FamilyTreeDNA to focus on research and science in addition to DNA processing. The lab allows constant improvement so their three types of genetic genealogy products, Y, mitochondrial and autosomal DNA.

Those three types of tests combine to provide genealogical insights and solutions. The more the science improves, the more solutions can and will be found.

If you watch the video, you’ll see 6 people who have solved particularly difficult and thorny problems. We are all long-time project administrators, all participate on a daily basis in this field and community – and all have an undying love for both genealogy and genetic genealogy.

You’ll recognize most of these people, including yours truly.

  • I talk about my mother’s heritage, unveiled through mitochondrial DNA.
  • Rob Warthen speaks about receiving a random phone call from another genealogist as his introduction to genetic genealogy. Later, he purchased a DNA test for his girlfriend, an adoptee, for Christmas and sweetened the deal by offering to “go where you’re from” for vacation. He didn’t realize why she was moved to tears – that test revealed the first piece of information she had ever known about her history. DNA changed her and Rob’s life. He eventually identified her birth parents – and went on to found both DNAAdoption.org and DNAGedcom.
  • Richard Hill was adopted and began his search in his 30s, but it would be DNA that ended his search. His moving story is told in his book, Finding Family: My Search for Roots and the Secrets in My DNA.
  • Mags Gaulden, professional genealogist and founder of Grandma’s Genes and MitoYDNA.org tells about her 91-year-old adopted client who had given up all hope of discovering her roots. Back in the 1950s, there was literally nothing in her client’s adoption file. She was reconciled to the fact that “I would never know who I was.” Mags simply could not accept that and 2 years later, Mags found her parents’ names.

  • Lara Diamond’s family was decimated during the holocaust. Lara’s family thought everyone in her grandfather’s family had been killed, but in 2013, autosomal DNA testing let her to her grandfather’s aunt who was not killed in the holocaust as everyone thought. The aunt and first cousin were living in Detroit. Lara went from almost no family to a family reunion, shown above. She says she finally met “people who look like me.”
  • Katherine Borges founded ISOGG.org, the International Society of Genetic Genealogy in 2005, following the first genetic genealogy conference in late 2004 where she realized that the genealogy community desperately needed education – beginning with DNA terms. I remember her jokingly standing in the hallway saying that she understood three words, “a, and and the.” While that’s cute today, it was real at that time because DNA was a foreign language, technology, and concept to genealogy. In fact, for years we were banned from discussing the topic on RootsWeb. The consummate genetic genealogist, Katherine carries DNA kits in her purse, even to Scotland!

Bennett says that he’s excited about the future, for the next generation of molecular scientific achievements. It was Bennett that greenlit the Million Mito project. Bennett’s challenge as a genetic genealogy/business owner was to advance the science that led to products while making enough money to be able to continue advancing the science. It was a fine line, but Max and Bennett navigated those waters quite well.

Apparently, Max, Bennett, and the FamilyTreeDNA customers weren’t the only people who believe that.

In January 2021, myDNA acquired and merged with FamilyTreeDNA. Max and Bennett remain involved as board members.

Dr.Lior Rauchberger, CEO of myDNA which includes FamilyTreeDNA

Dr. Lior Rauchberger, the CEO of the merged enterprise believes in the power of genetics, including genetic genealogy, and is continuing to make investments in FamilyTreeDNA products – including new features. There have already been improvements in 2021 and in the presentation by Katy Rowe, the Product Manager for the FamilyTreeDNA products, she explains what is coming this year.

I hope you enjoyed this retrospective on the past 22 years and are looking forward to crossing new frontiers, and breaking down those brick walls, in the coming decades.

Sneak Peek at FamilyTreeDNA – New Features and Upcoming Releases

You can watch Katy Rowe’s Sneak Peek video about what’s coming, here.

Of course, while other companies need to split their focus between traditional genealogy research records and DNA, FamilyTreeDNA does not. Their only focus is genetics. They plan to make advances in every aspect of their products.

FamilyTreeDNA announced a new Help Center which you can access, here. I found lots of short videos and other helpful items. I had no idea it existed.

In 2021, customers began being able to order a combined Family Finder and myDNA test to provide insights into genealogy along with health and wellness

Wellness includes nutrition and fitness insights.

Existing customers either are or will be able to order the myDNA upgrade to their existing test. The ability to upgrade is being rolled out by groups. I haven’t had my turn yet, but when I do, I’ll test and let you know what I think. Trust me, I’m not terribly interested in how many squats I can do anymore, because I already know that number is zero, but I am very interested in nutrition and diet. I’d like to stay healthy enough to research my ancestors for a long time to come.

FamilyTreeDNA announced that over 72,000 men have taken the Big Y test which has resulted in the Y DNA tree of mankind surpassing 50,000 branches.

This is utterly amazing when you consider how far we’ve come since 2002. This also means that a very high number of men, paired with at least one other man, actually form a new branch on the Y haplotree.

The “age” of tester’s Y DNA haplogroups is now often within the 500-year range – clearly genealogical in nature. Furthermore, many leaf-tip haplogroups as defined by the Big Y SNPs are much closer than that and can differentiate between branches of a known family. The Big Y-700 is now the go-to test for Y DNA and genealogy.

Of course, all these new branches necessitate new maps and haplogroup information. These will be released shortly and will provide users with the ability to see the paths together, which is the view you see here, or track individual lines. The same is true for mitochondrial DNA as well.

Y DNA tree branch ages will be forthcoming soon too. I think this is the #1 most requested feature.

On the Mitochondrial DNA side of the house, the Million Mito project has led to a significant rewrite of the MitoTree. As you know, I’m a Million Mito team member.

Here’s Dr. Paul Maier’s branch, for example. You can see that in the current version of the Phylotree, there is one blue branch and lots of “child” branches beneath that. Of course, when we’re measuring the tree from “Eve,” the end tip leaf branches look small, but it’s there that our genealogy resides.

In the new version, yet to be released, there is much more granularity in the branches of U5a2b2a.

To put this another way, in today’s tree, haplogroup U5a2b2a is about 5,000 years old, but the newly defined branches bring the formation of Paul’s (new) haplogroup into the range of about 500 years. Similar in nature to the Y DNA tree and significantly more useful for genealogical purposes. If you have not taken a mitochondrial DNA full sequence test, please order one now. Maybe your DNA will help define a new branch on the tree plus reveal new information about your genealogy.

Stay tuned on this one. You know the Million Mito Project is near and dear to my heart.

2022 will also see much-needed improvements in the tree structure and user experience, as well as the matches pages.

There are a lot of exciting things on FamilyTreeDNA’s plate and I’m excited to see these new features and functions roll out over the next few months.

Just the Beginning

The three days of RootsTech 2022 may be over, but the content isn’t.

In fact, it’s just the beginning of being able to access valuable information at your convenience. The vendor booths will remain in the Expo Hall until RootsTech 2023, so for a full year, plus the individual instructor’s sessions will remain available for three years.

In a few days, after I take a break, I’ll publish a full list of DNA sessions, along with links for your convenience.

Thank You Shout Outs

I want to say a HUGE thank you to RootsTech for hosting the conference and making it free. I specifically want to express my gratitude to the many, many people working diligently behind the scenes during the last year, and frantically during the past three days.

Another huge thank you to the speakers and vendors whose efforts provide the content for the conference.

And special thanks to you for loving genealogy, taking your time to watch and learn, and for reading this blog.

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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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Mitochondrial DNA Resources – Everything You Need to Know

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7

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.

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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

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Concepts – Endogamy and DNA Segments

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Members of endogamous populations intermarry for generations, creating many segments that match, especially at small centiMorgan levels. These matching segments occur because they are members of the same population – not because they are genealogically related in a recent or genealogical time-frame.

Said another way, endogamous people are all related to each other in some way because they descend from a small original population whose descendants continued to intermarry without introducing people outside of the community into the genetic line. In other words, the DNA segments of the original population simply keep getting passed around, because there are no new segments being introduced.

If you only have 10 segments at a specific genetic location to begin with, in the original population – then the descendants of those original people can only have some combination of the DNA of those original people until another person is introduced into the mix.

Examples of endogamous populations are Ashkenazi Jews, Native Americans, Acadians, Mennonite, Amish and so forth.

If you have some family lines from an endogamous population, you’ll match with many members of that group. If you are fully endogamous, you will have significantly more matches than people from non-endogamous groups.

I suggest that you read my article, Concepts: The Faces of Endogamy to set the stage for this article.

In this article, I want to provide you with a visual example of what endogamy looks like in a chromosome browser. It doesn’t matter which vendor you use so long as you can drop the cM count to 1, so I’m using FamilyTreeDNA for this example.

I’ve used three people as examples:

  • Non-endogamous European
  • Ashkenazi Jewish
  • Native American (Sioux)

For all testers, I selected their closest match above 200 cM total plus the following 4 for a total of 5 people to compare in the chromosome browser. I have only shown chromosomes 1-8 because I’m trying to convey the concept, not exact details of each chromosome, and 8 chromosomes fit into one screen shot.

If you’re not familiar with the terminology, you can read about cM, centiMorgans, in the article “Concepts – CentiMorgans, SNPs, and Pickin’Crab.”

Let’s take a look at our 3 examples, one at a time.

Non-Endogamous European Individual

The tester is non-endogamous. Four of the 5 individuals are known family members, although none were target tested by the tester.

Endogamy non-endogamous.png

The tester’s matches at 1 cM are shown below:

Endogamy non-endogamous 1cM.png

Note that the grey hashed regions are regions not reported, so no one matches there.

Below, the same 5 matches shown at 7 cM where roughly half of the matches will be identical by chance. Identical by descent segments include identical by population. You can read about the various types of “identical by” segments in the article, “Concepts – Identical by…Descent, State, Population and Chance”.

Endogamy non-endogamous 7cM.png

Ashkenazi Jewish Individual

The tester, along with both of their parents have tested. None of the matches are known or identified relatives.

Endogamy Jewish.png

Even though none of these individuals can be identified, two are related on both sides, maternal and paternal, of the person who tested.

In the chromosome browser, at 1cM, we see the following:

Endogamy Jewish 1cM.png

At 7cM, the following:

Endogamy 7cM.png

Native American Individual

The tester is 15/16 Native from the Sioux tribe. It’s unlikely that their matches are entirely Native, meaning they are not entirely endogamous. None of the matches are known or identified family members.

Endogamy Native.png

At 1 cM shown below:

Endogamy Native 1cM.png

At 7 cM, below:

Endogamy Native 7cM.png

Side by Side

I’ve placed the three 1 cM charts side by side with the non-endogamous to the left, the Jewish in the center and the Native, at right.

endogamy side by side.png

It’s easy to see that the Jewish tester has more 1 cM segments than the non-endogamous tester, and the Native tester more than both of the others.

Summary Comparison Chart

The chart below shows the difference in total number of segments, number of segments between 1 and 6.99 cM, and number of segments at 7 cM or larger. I downloaded these results into a spreadsheet and counted the rows.

Total Segments Total segments at 1 – 6.99 cM Total at 7 or > cM % 7 or >
Non-Endogamous 98 70 28 29
Jewish 168 139 29 17
Native American 310 295 15 5

You’ll note that the non-endogamous individual only has 58% of the number of total segments compared to the Jewish individual, and 32% compared to the Native American individual. The Jewish individual has 54% of the number of segments that the Native person has.

I was initially surprised by the magnitude of this difference, but after thinking about it, I realized that the Native people have been endogamous for a lot longer in the Americas than the Ashkenazi Jewish people in Europe. At least 12,000 years compared to roughly 2000 years, or approximately (at least) 6 times longer. Furthermore, the Native people in the Americans were entirely isolated until the 1400s, with no possibility of outside admixture. Isolation lasted even longer in the tribes that were not coastal, such as the Sioux in the Dakotas.

Note that the Jewish person and non-endogamous person have almost as many 7cM segments as each other, but the Native person has roughly half as many when compared to the other two. That means that because I made my selection starting point based on total cM, and the Native person has a LOT more 1-6.99 cM segments than the others, at that level, there are fewer strong segment matches for the Native individual.

The Native person’s percentage of 7 cM or greater segments is a much smaller percentage of the total segments.

As a percentage, the 7 or greater cM segments are 29% of the non-endogamous person’s total, 17% of the Jewish person’s, but only 5% of the Native person’s total.

Endogamy not only makes a difference when comparing results, but the specific endogamous population along with their history, how heavily endogamous they are, and how long they have been endogamous appears to factor heavily into the comparison as well.

RootsTech Day 3 – Jewish DNA, Schmoozing and the Flapper Party

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Day 3 at RootsTech was characterized by meeting lots of people, talking to several vendors and a party. Plus, I finally got to attend a session. Yes, really!

Ok, confession, I offered to help the presenter in order to garner a seat in the room. It was well worth a small amount of effort on my part to be able to see Bennett Greenspan, CEO and founder of Family Tree DNA present on The DNA of the Jewish People.

For those who don’t know, Bennett and his partner Max Blankfeld are the founding fathers of the direct to consumer genetic industry with the birth of Family Tree DNA 18 years ago.

I love Bennett’s DNA tie!

Even though Family Tree DNA hosts the annual conference for project administrators, Bennett has never presented at his own conference. I’ve heard him present once before, and he’s one of two speakers whose sessions I’d attend if they were talking about making mud pies. (Judy Russell is the other one.)

Bennett certainly didn’t let the audience down.

He began by telling folks how, just before his bar mitzva, his grandmother passed away. At the cemetery, his mother took his hand and walked him around, introducing him to the graves and family members buried there. Bennett didn’t realize how many relatives they had in Kansas.

Later that day, as family members arrived at the house to console the family, Bennett walked from person to person interviewing them about their memories of the “old country.” Bennett said, in their thick old-world accents, they told him about various family members, providing a link back in time.

Bennett then drew his first pedigree chart. I’m just amazed that he still HAS this chart. Thankfully, someone saved it. Little did he know how prophetic this would be or what staying power it would have. Nor could he have ever dreamt that his genealogy addiction was destined to someday change the world for all genealogists.

Indeed, Bennett was hooked at a very young age.

After Bennett sold his photographic supply company about 20 years ago, he became “too helpful” at home, offering to reorganize his wife’s pantry, and let’s just say that he got sent to his room. However, it just happens that in the room were his boxes of genealogy and well…history was about to be written.

In 1996 and 1997, Bennett had read two academic studies written about Y DNA in men. The first study was about the Jewish Cohen lineage, and the second was about the Jefferson males and Sally Hemmings.

Bennett’s Jewish family was torn apart by WWII and those who survived were scattered to the winds. This history makes genealogy particularly difficult for Jewish people, both the record destruction in Europe and the fact that the family remnants are so widely scattered and often lost to each other.

In Bennett’s case, he found a Nitz family in Argentina that claimed to be from the same village as his maternal grandmother’s Nitz family, and he wanted to verify that it was the same family by Y DNA testing – just like the Cohen study and the Jefferson/Hemmings case.

Bennett called Dr. Michael Hammer at the University of Arizona who was one of the authors on the Cohen paper, and whose lab had processed the samples. Dr. Hammer told Bennett that they only did academic processing, not for consumers. Bennett asked Dr. Hammer where he could turn to write a check and get an answer, but Dr. Hammer informed Bennett that such a company or location didn’t exist. Little did Dr. Hammer know that Bennett was an entrepreneur whose wife had banished him to timeout, in essence because he “retired” too young and was bored and underfoot.

Here’s what happened next!

I love to hear Bennett tell this story.

As a result, Family Tree DNA was born.

Bennett’s question about his Nitz line was indeed answered by a perfect Y DNA match. Indeed, it was the same family line!

Bennett then proceeded to search for Greenspan males, but that answer didn’t arrive for more than another decade. Bennett tested a lot of Greenspans, but it wasn’t until he met a Mr. Green at a conference that he found a match.

Jewish men fall into specific haplogroups or clusters, sometimes referred to as clans, on the Y DNA phylotree. The same is true for mtDNA, but that wasn’t the topic of his presentation.

Therefore, by testing a male, you can tell by his haplogroup and his matches whether or not he is Jewish.

The Ashkenazi and Sephardic Jews are very similar in their haplogroup breakdown and distribution, as are the rest of the non-Jewish residents of the Middle East.

They do, after all, originally descend from the same ancestors.

You can see the difference in the haplogroup spread between the people with Middle Eastern heritage, above, and the Ukraine, below.

These slides refute the theory that the Russian Khazars converted to Judaism en masse and subsequently migrated to eastern Europe. If this were the case, the DNA of the Ashkenazi Jews would be split much more closely along Ukrainian lines than Middle Eastern lines, and you can see for yourself which pie chart the Ashkenazi population more closely resembles.

The real message here is that thanks to DNA testing, we know that the sons of the Levant are far more alike than different – and that the Ashkenazi Jews are indeed from the Middle East and not from Russia.

Bennett’s family is from Eastern Europe, so the last thing he expected to discover was that his family was actually a displaced Sephardic line – but alas, through DNA matching and following the path of the DNA, that’s exactly what Bennett discovered.

As Bennett said, it rocked his world. No oral history reflected the 1492 expulsion of his family from Spain. This information gave him a new lens into the fate of his family when the Jews were displaced from Spain, penniless, their property confiscated, and leaving hurriedly to avoid death.

Bennett may never know their names, but he knows where they traveled on their long, perilous journey of over 2000 years from the Levant to Spain, then to Eastern Europe and finally into Argentina and the States.

I’ve summarized Bennett’s presentation significantly, but Bennett’s family history, revealed by Y DNA is a powerful story of family reunification.

Meet and Greet

In the Starbucks in the hotel, my 7th cousin, Laurel, found me and we talked about our common genealogy in Wilkes County, NC – the Sarah Rash (1748-1829) and Robert Shepherd (1739-1817) lines. If these are your lines too, please give a shout out.

I discovered that Laurel is going to be returning to Wilkes County for additional research, and she discovered that I know the location of the now-bulldozed-into-the-creek cemetery. Yes, we’re going to exchange information.

We’ve actually chatted a few times over the past few days and I’ve enjoyed it immensely.

On to the conference.

By day 3, I’ve finally developed a sense, at least somewhat, of the lay of the land. RootsTech is massive and the convention center is laid out anything but intuitively.

I walked by the theater in Lisa Louise Cooke’s genealogy Gems booth and caught a sentence where the presenter was explaining about cluster research, also known as FAN – friends and neighbors. In essence, people traveled in packs and you’ll tend to find them together. I wanted to agree vehemently, but did so silently and was very glad to see others listening attentively.

On down the aisle, I spotted an ad for DNA charts. As irritating as I find the ethnicity estimates, I must admit, these are really attractive.

However, I then spied the wall chart.

How fun is this? A gift maybe? How about adding the haplogroup for each person on the chart? So many possibilities. I can see a wall…

Speaking of walls, Living DNA created a “photo booth” in their booth, and David Nicholson, one of the Living DNA Founders and I hammed it up a bit. It’s always nice to meet the people who own and run the various companies. David and I have spoken and skyped previously, but never managed to be in the same place at the same time until now.

Most of the DNA vendors had long lines throughout the conference. That’s the good news, because no matter where you’ve tested, you’ll be getting new matches soon.

I stood in line to purchase a Living DNA kit for a friend, so I eaves-dropped anonymously.

Living DNA indicates that they provide a “3 in one” test, meaning autosomal ethnicity estimates (no matching yet, but anticipated this year), a mitochondrial haplogroup for your direct matrilineal line, and if you are a male, a Y DNA haplogroup for your paternal line.

For the sake of clarity, men receive 3, but women receive a “2 in one” since they have no Y chromosome.

I’m still hoping to be able to connect and have a few minutes to sit down and discuss Living DNA development for 2018.  Hopefully maybe tomorrow.

By now everyone should know that I find the full Y and mitochondrial DNA test, which provides you with actual test results and matching for those lines, extremely beneficial. I want to be very clear that knowing your Y and mtDNA haplogroup is very interesting and can be useful, but it’s not the same thing as receiving the actual results which can provide you with a significant history, along with matching.

Y and mitochondrial DNA is not an alternative to autosomal DNA testing, but these types of DNA tests supplement and enhance each other.

Of the major vendors, Family Tree DNA is the only vendor who offers that level of testing and has a data base for Y and mitochondrial DNA matching.

I’m so grateful that Family Tree DNA continues to offer these tests, although the autosomal market clearly outstrips the Y and mtDNA market. At trade shows, I think offering multiple types of tests is actually a detriment to Family Tree DNA, because they have to take time to educate their customers as to the different types of DNA that can be tested, ask about their goals, and then advise as to the appropriate test for the customer’s specific situation.

Above, in the Family Tree DNA booth, Bennett Greenspan is explaining the various types of tests to a potential customer.

Ran into Tom MacEntee again. It’s too bad he blends into the background and is so shy. Wait till you see what he’s wearing at the party later in the evening. OK, OK, I’ll shown you now.

Tom looks stunning in his tiara, doesn’t he!

Now, in the gratitude department – meet Dave Robison.

Dave introduced himself to me by saying something like, “You don’t know me, but you were such an inspiration to me when I was just getting started.” I was kind of taken aback, but then he continued by saying that he was somewhat doubtful of where he was “going,” so to speak, and that he had e-mailed me and I had answered him. From that, he decided that if I could do this, so could he, and lo and behold, he has, in spades.

Dave is now a professional genealogist who also donates a great deal of his time to several genealogical organizations. Please check out Dave’s story here.

Part of Dave’s trip to Salt Lake was to visit the Family History Library to perform some client work. On Saturday, I escaped to the library as well. (Don’t worry, you’re going along.) As luck would have it, we both found ourselves having lunch at the closest restaurant. Of course, we broke bread (or ate salad actually) together and had a lovely, lovely meal. I can’t wait to see Dave again.

Dave’s introduction moved me greatly. So often, we really never know the extent of the difference a kind word at the right time and place may make to someone.

I’m very grateful for Dave telling me, because it’s all too easy to be grouchy and tired when answering the 235th e-mail of the day.

I’m so pleased to have a new friend too.

Wandering on down the aisle, my eye was drawn to a ring that looked like it might be a helix. Could it be?

I do sometimes think I’m married to DNA.

Whoever thought you’d see the day when helix jewelry was available in a bead booth?

With earrings to match.

If you’re interested, I’m sure The Bead Farm would gladly ship.

Anyone watch Relative Race? BYU TV describes this show as, “With their own DNA as a roadmap, and $25,000 on the line, four couples must race coast-to-coast and discover a different relative every day.”

The season premier is March 4th!

Do they actually drive these brightly colored cars in the series? Obviously, I’ve never watched. Clue me in, someone…

Next, I had an amazing surprise.

Last summer, when Jim and I were in Europe chasing my ancestors across the continent, we met a lovely couple on the same journey. We enjoyed several meals together, parting ways and promising to keep in touch, with the best of intentions. However, life just got in the way, until today.

I looked up, and there stood my friend, Lisa Hunt. Of course, entirely out of context, I recognized her but for a moment, was somewhat confused. It’s a very long way from the Rhine River to Salt Lake City.

As it turns out, Lisa was at the conference hoping to meet up with a new cousin and stumbled across me! No, I’m not the cousin.

If you have a tree at Family Search, and you register for the conference, the app will search your tree and the trees of other attendees and tell you how many cousins you have at RootsTech, who they are and how you are related – with the idea that you can find each other. What fun!

And yes, Lisa did find her cousin!

One of the booths I noticed was the Society of Mayflower Descendants.

As luck would have it, Jim Brewster who presented at RootsTech (and works for Family Tree DNA) is my cousin through the William Brewster line. For those who don’t know, William Brewster is one of the Mayflower passengers. Ironically, I applied last week to join this society, right after I documented my line in order to join the Mayflower DNA Project at Family Tree DNA. Do you have any Mayflower ancestors?

I came to RootsTech with a list of vendors that I absolutely wanted to see and meet. Pierre Cloutier who wrote Charting Companion was one of those people. I’ve used this product for years to produce great charts and reports. It works with almost any genealogy software!

Here, Pierre’s explaining the McGuire Method to a visitor. I wasn’t quite sure how he could have implemented this methodology, so he kindly explained it to me. Charting companion now includes special mtDNA lineages displayed on charts, X chromosome inheritance as well as the new McGuire methodology.

If you’re trying to figure out where a DNA tester places in a group of other testers, the McGuire Method will be helpful, and Pierre has automated this methodology. Thank you, Pierre!

Flapper Party

Apparently, the MyHeritage After-Party has become a RootsTech tradition, even though this is only the third year.

I found more photos online of the party than of any other single conference related event last year, and maybe more than all vendors and sessions combined.

Who says genealogists are boring people?

Yes, indeed, the party this year was themed. Fortunately, you didn’t have to dress the part to attend, but many did. I also discovered, albeit too late, that Salt Lake City has a costume rental where you can rent and return. I’ll file that one away for future use! I wonder what they have in “DNA.”

The best part of this party was networking with others. I’ll introduce you to a few people you may know from their blogs and online presence.

Leah LePerle Larkin, who blogs as The DNA Geek, and I are cousins several times over through our Acadian lines. One day, when we have a breather, maybe we’ll actually figure out exactly how many times we’re related. Acadian lines are like that.

We’ve known each other online for years now, and finally had a chance to sit down at a table and actually talk. No, not at the party, earlier.

From left to right, front row, Angie Bush, genetic genealogist with ProGenealogists, Leah LaPerle Larkin, me. Rear, left to right, Rob Warthen and Richard Weiss with DNAadoption and DNAGedcom and Jony Perle of DNAPainter fame, peeking over the top.

Upon arrival, supplies were provided at a craft table to create hats and headbands. When you’re late, you get to celebrate your Native heritage by sticking some feathers in your hair. That was fine with me. However, my headband was too tight, so I dispensed with the headband and instead, liberated an orange feather centerpiece to use as a “parasol.” Hey, be creative and go big or stay home.

To be clear, Richard had not sprouted an orange bird on this head – that’s my parasol in my hand positioned on his shoulder.

Richard is a far more talented dancer than I am, but I had loads of fun anyway! This is one place where, thankfully, you don’t have to be good to have fun.

Jessica Taylor with Legacy Tree Genealogists, at left, with unknown people at right and a special friend. I’m sure there’s a story, I just don’t happen to know what it is!

Line dancing, disco lights and costumes.

A huge thank you to our host, Gilad Japhet, CEO and founder of MyHeritage.

Tomorrow, you’re going with me to visit the Family History Library! Never been there?  Neither have I!

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Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American

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Mitochondrial DNA provides us with a unique periscope back in time to view our most distant ancestors, and the path that they took through time and place to become us, here, today.  Because mitochondrial DNA is passed from generation to generation through an all-female line, un-admixed with the DNA from the father, the mitochondrial DNA we carry today is essentially the same as that carried by our ancestors hundreds or even thousands of years ago, with the exception of an occasional mutation.

Y and mito

You can see in the pedigree chart above that the red mitochondrial DNA is passed directly down the matrilineal line.  Women contribute their mitochondrial DNA to all of their children, of both genders, but only the females pass it on.

Because this DNA is preserved in descendants, relatively unchanged, for thousands of years, we can equate haplogroups, or clans, to specific regions of the world where that particular haplogroup was born by virtue of a specific mutation.  All descendants carry that mutation from that time forward, so they are members of that new haplogroup.

For example, here we see the migration path of haplogroup A, after being born in the Middle East, spreading across Eurasia into the Americas, courtesy of Family Tree DNA.

Hap A map crop

This pie chart indicates the frequency level at which haplogroup A is found in the Americas as compared to haplogroups B, C, D and X.

Hap A distribution

However, not all of haplogroup A arrived in the Americas.  Some subgroups are found along the path in Asia, and some made their way into Europe.  There are currently 48 sub-haplogroups of haplogroup A defined, with most of them being found in Asia.  Every new haplogroup and sub-haplogroup is defined by a new mutation that occurs in that line.  I wrote about how this works recently in the article, Haplogroups and The Three Brothers.

In the Americas, Native American mitochondrial haplogroups are identified by being subgroups of haplogroup A, B, C, D and X, as shown in the chart below.

beringia map

In the paper, Beringian Standstill and Spread of Native American Founders, by Tamm et al (2007), haplogroup A2 was the only haplogroup A subgroup identified as being Native American.

As of that time, no other sub-haplogroups of A had been found in either confirmed Native American people or burials.

In June, 2013, I realized that a subgroup of mitochondrial haplogroup A4 might, indeed, be Native American.

The haplogroup A4 project was formed as a research project with Marie Rundquist as a co-administrator and we proceeded to recruit people to join who either were haplogroup A4 or a derivative at Family Tree DNA, or had tested at Ancestry.com and appeared to be haplogroup A4 based on a specific mutation at location 16249 in the HVR1 region.  As it turns out, location 16249 is a haplogroup defining marker for haplogroup A4a1.

There weren’t many of these Ancestry people – maybe 20 in total at that time.  Ancestry has since discontinued their mitochondrial and Y DNA testing and has destroyed the data base, so it’s a good thing I checked when I did.  That resource is gone today.

Family Tree DNA has always been extremely supportive of scientific studies, whether through traditional academic channels or via citizen science, and they were kind enough to subsidize our testing efforts by offering reduced prices for mitochondrial testing to project members.  I want to thank them for their support.

Other haplogroup administrators have also been supportive.  I contacted the haplogroup A administrator and she was kind enough to send e-mails to her project members who were qualified to join the A4 project.  Supportive collaboration is critically important.

I wrote an article about the possibility that A4 might be Native, and through that article, raised money to enable people to test at Family Tree DNA or upgrade to the full sequence test.  Full sequence testing is critical to obtaining a full haplogroup designation.  Many of these people were only, at that time, defined by HVR1 or HVR1+HVR2 testing as haplogroup A.  Haplogroup A is, indeed, a Native American haplogroup, but it’s also an Asian haplogroup and we see it in Europe from time to time as well.  The only way to tell the difference between these groups is through full sequence testing.  Haplogroup A was born in Asia, about 30,000 years ago and has many subgroups.

What Do We Know About Haplogroup A4?

Haplogroup A4 has been identified as a subgroup of the parent haplogroup A and is the parent haplogroup of A2.  In essence, haplogroup A gave birth (through a mutation) to subgroup A4 who gave birth through a mutation to subgroup A2.

To date, before this research, all confirmed Native American haplogroups were subgroups of haplogroup A2.

In the Kumar et al 2011 paper, Schematic representation of mtDNA phylogenetic tree of Native American haplogroups A2 and B2 and immediate Siberian-Asian sister clades (A2a, A2b, A4a, A4b and A4c), no A4 was reported in the Americas, although A4 is clearly shown as the parent haplogroup of A2, which is found in the Americas.

On the graph below, from the paper, you can see the color coded “tabs” to the right of the haplogroup A designations that indicate where this haplogroup is found.  As you can see, A4 and subgroups is found only in Siberia and Asia, not in the Americas, which is indicated by yellow.

Hap A and B genesis

Schematic representation of mtDNA phylogenetic tree of Native American haplogroups A2 and B2 and immediate Siberian-Asian sister clades (A2a, A2b, A4a, A4b and A4c). Coalescent age calculated in thousand years (ky) as per the slow mutation rate of Mishmar et al. [58] and as per calibrated mutation rate of Soares et al. [59] are indicated in blue and red color respectively. The founder age wherever calculated are italicized. The geographical locations of the samples are identified with colors. For more details see complete phylogenetic reconstruction in additional file 2 (panels A-B) and additional file 3. Kumar et al. BMC Evolutionary Biology 2011 11:293 doi:10.1186/1471-2148-11-293

I then checked both GenBank and www.mtdnacommunity.org for haplogroup A4 submissions.  Ian Logan’s checker program makes it easy to check submissions by haplogroup.

MtDNACommunity reflected one A4 submission from Mexico and from the United States, which does not necessarily mean that the United States submission is indigenous – simply that is where the submission originated.  The balance of the submissions are from either academic papers or from Asia.

During this process, I utilized PhyloTree, Build 15, shown below, as my reference tree.  Build 16 was introduced as of February 2014.  It renames the A4 haplogroups.  In order to avoid confusion, I am utilizing the Build 15 nomenclature.  These are the haplogroup names currently in use by the vendors and utilized in academic papers.

Hap A tree

I am also utilizing the CRS version, not the RSRS version of mutations.  Again, these are the mutations referenced by academic papers and the version generally used among genealogists.

Family Tree DNA provides an easy reference chart of which mutations are haplogroup defining.  For haplogroup A4, we find the following progression.

A4 T16362C
A4a G1442A
A4a1 G9713A, T16249C
A4a1a T4928C

This means that everyone who falls in haplogroup A4 carries this specific mutation at location 16362.  The original value at that location was a T and in haplogroup A, that T has mutated to a C.  This defines haplogroup A4.  So, if you don’t have this mutation, you definitely aren’t in haplogroup A4.  Everyone in haplogroup A4 carries this mutation (unless you’ve had a back mutation, a very rare occurrence.)

This is actually a wonderful turn of events, because it means that the defining mutation for A4 is in the HVR1 region, which further means that regardless of how the haplogroup A individual is classified, I can tell with a quick glance if they are A4 or not.

In addition, subgroups are defined by other mutations as well, shown above.  For example, haplogroup A4a carries the A4 mutation of T16362C plus the additional mutation of G1442A that defines subclade A4a.

Full sequence testing showed that there was actually quite a variety of subhaplogroups in the project participants.

What Did We Find?

In the haplogroup A4 project, we now have 55 participants who fell into 11 different haplogroups when full sequence tested.

A4 project distribution crop

I have removed all haplogroup A2 individuals from further discussion, as we already know A2 is Native.  We have established a haplogroup A2 project for them, as well.

A4b

We found two haplogroup A4b individuals.  The most distant known ancestor of one is found in Tennessee, but the most distant ancestor of the other is found in England.  These two individuals have 19 HVR1 matches, of which many are to other A4b individuals.  There is no evidence of Native American ancestry in this group.

A4-A200G

This unusual haplogroup name indicates that this is a subgroup of haplogroup A4, defined by a mutation at location 200 that has changed from A to G.  The new subgroup is waiting to be named.  So eventually A4-A200G will be replaced with something like A4z, just as an example.

This individual is from Asia, so this haplogroup is not Native.

A10

One individual, upon full sequence testing, was found to carry haplogroup A10, which is not a subgroup of A4.  This is quite interesting, because the most distant ancestor is Catherine Pillard, originally believe to be one of the “Kings Daughters,” meaning French.  This article explains the situation and the question at hand.

All five of her full sequence matches are either to other descendants of Catherine Pillard, or designated as French Canadian.

One of this woman’s ten HVR2 matches shows her ancestor, Annenghton Annenghto, as born at the Ossosane Mission, Huronia, La Rochelle, Ontario, Canada and died in 1657 in Canada.  If this is correct and can be confirmed, haplogroup A10 could be Native, not French.  Her daughter, Marie Catherine Platt has a baptismal record dated March 30, 1651, was also born at the mission, and is believe to be Huron.

This article more fully explains the research and documents relevant to Catherine Pillard’s ancestry.

Based on these several articles, it seems that an assumption had originally been made that because the individual fell into haplogroup A, and haplogroup A was Asian and Native, that this individual would be Native as well.

This determination was made in 2007, based on only the HVR1 and HVR2 regions of the mitochondrial DNA, and on the fact that the DNA results fell within haplogroup A, as documented here.  The HVR1 and HVR2 regions do not include the haplogroup defining mutations for haplogroup A10, so until full sequence testing became available, this sequence could not be defined as A10.  The conclusion that haplogroup A equated to Native American was not a scientific certainty, only one of multiple possibilities, and may have been premature.

I contacted several French-Canadian scholars regarding the documents for Catherine Pillard and there is no consensus as to whether she was Native or European, based on the available documentation.  In fact, there are two very distinct and very different opinions.  There is also a possibility that there are two women whose records are confused or intermixed.

So it seems that both Catherine Pillard’s DNA and supporting documents are ambiguous at this point in time.

One of the ways we determine mitochondrial ethnicity in situations like this is “guilt by genetic association,” to quote Bennett Greenspan.  In other words, if you have exactly the same DNA and mutations as several other people, and they and their ancestors are proven to live in Scotland, or Paris, or Greece, you’re not Native American.  This works the other way too, as we’ll see in Kit 11 of the haplogroup A4 outliers group.

Looking at other resources, MtDNA Community shows two references to A10, one submitted from Family Tree DNA and one from the below referenced article.

Haplogroup A10 has one reference in Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia by Malyarchuk et al, (201 Molecular Biological Evolution) but has since been reassigned as haplogroup A8, as follows:

However, some of the singular haplotypes appear to be informative for further development of mtDNA classification. Sample 23_Tm could be assigned to A10 according to nomenclature suggested by van Oven and Kayser (2009). However, phylogenetic analysis of complete mtDNAs (fig. 1) reveals that this sample belongs to haplogroup A8, which is defined now by transition at np 64 and consists of two related groups of lineages—A8a, with control region motif 146-16242 (previously defined as A8 by Derenko et al. [2007]), and A8b, with motif 16227C-16230 (supplementary table S3, Supplementary Material online). Analysis of HVS I and II sequences in populations indicates that transition at np 64 appears to be a reliable marker of haplogroup A8 (supplementary table S3, Supplementary Material online). The only exception, the probable back mutations at nps 64 and 146, has been described in Koryak haplotype EU482363 by Volodko et al. (2008). Therefore, parallel transitions at np 64 define not only Native American clusters of haplogroup A2, that is, its node A2c’d’e’f’g’h’i’j’k’n’p (Achilli et al. 2008; van Oven and Kayser 2009), but also northern Eurasian haplogroup A8. Both A8 and subhaplogroups are spread at relatively low frequencies in populations of central and western Siberia and in the Volga-Ural region. A8a is present even in Transylvania at frequency of 1.1% among Romanians, thus indicating that the presence of such mtDNA lineages in Europe may be mostly a consequence of medieval migrations of nomadic tribes from Siberia and the Volga-Ural region to Central Europe (Malyarchuk et al. 2006; Malyarchuk, Derenko, et al. 2008).

On Phylotree build 15, A10 is defined as T5393C, C7468T, C9948A, C10094T A16227c, T16311C! and the submissions are noted as the Malyarchuk 2010b paper noting it as “A8b”and a Family Tree DNA submission.

At this point, haplogroup A10 is indeterminate and could be either Native or European.  We won’t know until we have confirmed test results combined with confirmed genealogy or location for another A10 individual.

A4

Haplogroup A4 itself is not the haplogroup I originally suspected was Native.  When this project first began, we had few A4s, and I suspected that they would become A4a1 when full sequence tested.  I expected A4a1 would be Native American.

Subsequent testing has shown that haplogroup A4 very clearly falls into major subgroups, as defined by different mutations.

A4 European

The European A4 group is comprised of three participants.  Of those three, two are matches to each other and the third is quite distant with no matches.  I suspect that we are dealing with two different European sub-haplogroups of A4.

Two project participants, one from Romania and one from Poland match each other and both match one additional individual from Hungary who is not a project member.  This group is eastern European.

The Romanian and Polish kits that match each other both carry mutations at locations 16182C, 16183C, 16189C, 150T, 204C, 3213G, 3801C and 14025C.  The third person that they match, who is not a project member, from Hungary, matches one of those kits exactly, so that gives us three kits carrying this same series of mutations.  These mutations do not match any other individuals carrying haplogroup A4.  This group appears to be Jewish, as all three of the participants are of the Jewish faith.

This leaves the third project participant from Poland who does not have any matches today, within or outside of the project.  This participant is clearly a different subclade of A4.  They match none of the defining markers of the group above. They do have unique mutations at locations not found in other A4 participants within the project.

This provides us with the following European haplogroup A4 results:

  • Eastern European –Jewish – 2 participants plus one exact full sequence match outside of project
  • Eastern European – does not match group above, has no matches today, five unique mutations including 4 in the coding region.

A4 Chinese

This A4 participant is from China.

This sequence is actually very interesting because of its relative age.  This individual has 109 matches at the HVR1 level.  This means, of course, that they are exact matches.  They match many people in varying locations such as people with Spanish surnames, participants from Michigan, Mexico and Asia which include people with extended haplogroups of A, A4 and A4-A200G haplogroup designations.

At first this appears confusing, until you realize two things.  First, the participant doesn’t continue those matches at the HVR2 level and second, this means that all of those people still carry the Haplogroup “A4 signature” HVR1 mitochondrial DNA, exactly.

This means that those matches stretch back in time thousands of years, until before the divergence of Native Americans and Asians, so at least 12,000 years, if not longer.  People who have incurred mutations in the HVR1 region don’t match, but those who have not, and today, there are only 109 in the Family Tree DNA data base, still match each other – reaching back to their common Asian ancestor many millennia ago.

This individual has developed two mutations in the HVR2 region at locations 156G and 159G.  The participant also does not carry the haplogroup A defining mutation at location 263G which means either that 263G actually defines a subgroup, or this participant has had a back mutation to the original state at this location.  This individual did not test at the full sequence level.

A4 Americas

This leaves a total of 14 haplogroup A4 individuals within the project.

In order to show a comparison, I have removed all private mutations where none of this group matches each other.  I have also removed the haplogroup defining mutations as well as 16519C and all insertions and deletions since those areas are considered to be unstable.  In other words, what I’m looking for are groups of mutations where this group matches each other and no one else.  These are very likely sub-haplogroup defining mutations.

In addition to all private mutations, deleted columns include: 16223, 16332, 16290, 16319, 16362, 16519, 73, 152, 235, 263, 309.1, 309.2, 315.1, 522, 523, 663, 750, 1438, 1736, 2706, 4248, 4769, 4824, 7028, 8794, 8860, 11719, 12705, 14766, 15326.

I then rearranged the remaining columns and color coded groups.  You can click on the chart to enlarge.

A4 mutations

Note: na means not available, indicating that the participant did not test at that level.  An x in the cell indicates that the mutation indicated in that column was present.

The purple and apricot groupings show different clusters of matches.  The light purple is the largest group, and within that group, we find both a dark purple group and an apricot group.  However, not everyone fits within the groups.

A4 – Virginia

The first thing that is immediately evident is that the first kit, Kit 1, is not a member of this purple grouping.  This person has three full sequence matches outside of the project, one whose ancestor was born in Texas.  This individual has three unique full sequence mutations.  This grouping may be Native, but lacks proof.

Additional genealogical research might establish a confirmed Native American connection. If Kit 1 is Native, this line diverged from this larger A4 group long ago, before any of these purple or apricot mutations developed.

This participant’s ancestor traces to Virginia.  Regardless of whether this haplotype is Native or not, it is most likely a sub-haplogroup of A4.

A4 – Colombia

The next least likely match is Kit 2.  This individual shares two of the common HVR2 markers, 146 and 153, but did not test at the full sequence level.  Given what I’m seeing here, I suspect that 146 might be a sub-haplogroup defining mutation for this light purple group.  In addition, 8027 and 12007 might be as well.  That includes everyone (who has tested at the relevant levels) except for Kit 1 and Kit 11.

Haplogroup A4 from Colombia is most likely Native.  Few people are in the public data bases are from Colombia.  One would expect several mutations to have occurred as groups migrated.  At the HVR1 level, this individual has 18 matches, most of which have Spanish surnames.  This participant has no HVR2 matches.

A4 – California Group

The next group is the apricot group which I’ve nicknamed the California group.  Both of these participants, Kit 3 and Kit 4, find their ancestors in either southern California or Baja California, into Mexico.  Finding these haplogroups among the Mexican, Central and South American populations is an indicator of Native heritage, as between 85% and 90% of Mexicans carry Native American matrilineal lineage.

These participants also match a third individual who is not a project member whose ancestor is also found in Baja California.  This group’s defining mutations are likely 16209C, 5054T, 7604A, 7861C and 12513G.  Fortunately, these will be relatively easy to discern due to the HVR1 mutation at 16209.

A4 – Puerto Rico Group

The dark purple group, Kits 5-9, is the Puerto Rican group even though it includes one kit from Mexico and one from Cuba.  The Mexican kit, Kit 5, in teal, is only a partial match.  Kits 6-9 match each other plus several additional people not in the project whose most distant ancestors are found in Puerto Rico as well.  This group has several defining markers including 16083T, 16256T, 214G, 2836T, 6632C and possibly 16126C, although Kit 5 carries 16126C while Kit 9 does not.

The Puerto Rico DNA project has another 18 individuals classified as haplogroup A or A4 and they all carry 16083T, 16256T and those who have taken the HVR2 test (10) carry 214G as well.  Only one carries 16126C, so that would not be a defining mutation for this major group, but could be for a subgroup of the Puerto Rico group.

Given the history of Puerto Rico, this is probably a signature of the Taino or Carib people.

In 2003, 27 Taino DNA sequences were obtained from pre-Columbian remains and reported in this paper by Laluezo-Fox et al.  This was very early in DNA processing, especially of remains, and they were found to carry only haplogroups C and D.  These remains were not from the islands, but were from the La Caleta site in the Dominican Republic.

The Taino today are considered to be culturally extinct due to disease, enslavement and harsh treatment by the Spanish, but they maintained their presence into the 20th century and were a significant factor in the population of the West Indies, including Puerto Rico.  Their descendants would be expected to be found within the population today.  The Taino were the primary tribe found on Puerto Rico and were an Arawak indigenous people who arrived from South America.  The Taino were in conflict with the Caribs from the southern Lesser Antilles.

Carib women were sometimes taken as captives by the Taino.  The Caribs originated in South American near the Orinoco River and settled on the islands around 1200AD, after the Taino were already settled in the region.

It’s therefore possible that haplogroup A4 is a Carib signature.  In 2001, Martinez-Cruzaco et al published a paper titled Mitochondrial DNA analysis reveals substantial Native American ancestry in Puerto Rico in which they found that haplogroup A was absent in the Taino by testing the Yanomama whose territory was close to the Taino.  If this is the case, then haplogroup A must have arisen and admixed from another native culture, or, conversely, the Yanomama tested were an incomplete sampling or simply not adequately representative as a proxy for the Taino.  However, if haplogroup A4 is not found in the Taino, the most likely candidate would be the Caribs, assuming that the Martinez-Cruzaco paper conclusions are accurate, or the even older Ortoiroid, Saladoid culture or Arawak tribe who are believed to have assimilated with or were actually another name for the Taino.

A4 – Mexican/Puerto Rican Mutation 16126 Group

This group, Kits 5-8, is defined by mutation 16126C.  It’s quite interesting, because it includes Kit 5 that does not match the rest of the Puerto Rican markers.  Only some Puerto Rican samples carry 16126C.  Kits 5-8 in this the A4 project do carry this mutation, but 18 of the haplogroup A kits in the Puerto Rican project which do carry the dark purple signature mutations do not carry this mutation.  This mutation may be a later mutation in some of the people who settled on Puerto Rico and some of which remained on the mainland.  The most distant ancestor of Kit 5 is from Tangancícuaro de Arista, Michoacan de Ocampo, shown below.

Tangancícuaro de Arista, Michoacan de Ocampo

Kit 5 has five full sequence matches, all of which carry Spanish surnames.

A4 Outliers

This leaves only kits 10-14.  These kits don’t match each other but do fall, at least on some markers, within the light purple group.

Kit 12 is from Costa Rica and has no matches at the HVR1 level because of a mutation at location 16086C, but has not tested at the HVR2 or full sequence levels.   They might fit into a group easily with additional testing.

Kit 13 is from Mexico and has only two HVR1 matches who have not tested at a higher level.  This kit, like Kit 5, does not carry mutation 16111T which could indicate an early split from the main group or a back mutation.

Kit 10 is from Mexico, has 17 HVR1 matches, some of which indicate that their ancestors are from Texas and Mexico.  Kit 10 has no HVR2 or full sequence matches.

Kit 11 is from Honduras and interestingly, has 158 HVR1 matches to a wide variety of people including those from Costa Rica, Mexico, South Carolina, Oklahoma, a descendant of a Crow Tribal member, North Dakota, Guatemaula, the Cree/Chippewa, a descendant of an Arikawa and one person who indicated their oldest ancestor is from Aragon, in Spain.  This means that all of these people carry the light purple group defining 16111T mutation.

Kit 14 is from Honduras and has only two matches at the HVR1 level, one which is from El Salvador.  Both of the matches have only tested to the HVR1 level.  Kit 14 does carry the 16111T mutation as well as most of the other light purple mutations, but is missing mutation 164C which is present in the entire rest of the light purple group.  This could signify a back mutation.  In addition, Kit 14 matches on marker 16189T with kit 6 from Puerto Rico and on 16311C with Kit 1 from Virginia, but with no other participants on these markers.

These people and their matches and mutations could well represent additional subgroups of haplogroup A4

A4a1

This leaves us with the A4a1 subgroup, which is where I started 18 months ago.

The haplogroup A4a1 group is very interesting, albeit not for the reasons I initially anticipated.  Again, the same columns were deleted as noted in A4, above, leaving only columns (mutations) unique to this group.  As with the other subgroups, these are likely sub-haplogroup defining mutations.

A4a1 mutations

Note:  na means not available, indicating that the participant did not test at that level

A4a1 Mexico

Kit 15, the pink individual did not take the HVR2 or full sequence test, but does not match any other participants at the HVR1 level.  This person’s maternal line is from Mexico.  Kit 15 could be Native and with additional testing could be a different subclade.

A4a1 European Group

The three yellow rows are positively confirmed from Europe.  Kits 1 and 2 do not match each other nor any other participants.

Kit 3 however, matches Kits 4-14.

Kits 3-14, all match each other at the HVR1 level.  One individual has not taken the HVR2 test and one has not taken the full sequence test, but otherwise, they also all match at the HVR2 and full sequence level.  Note that Kit 3 is also in the confirmed European group based on two sets of census documentation.

Within the group of participants comprising kits 3-14, several have oral history and some have circumstantial evidence suggesting Native ancestry, but not one has any documented proof, either in terms of their own ancestors being proven Native, their ancestor’s family members being proven Native, or the people they match being proven as Native.

Kit 3 states that their ancestor was born in England in 1838.  I verified that the 1880 census for New York City confirms that birth location of their ancestor.  The daughter’s mother’s birthplace is also noted to be England in the 1900 census.

Therefore, based on the fact that Kit 3 is proven to be English, according to the census, and this kit matches the rest of the group, Kits 4-14, at the HVR1, HVR2 and full sequence levels, it is very unlikely that this group is Native.

Kit 15, who does not match this group, but who has not tested above the HVR1 level, is the only likely exception and may be Native.  Full sequence testing would likely suggest a different or expanded subgroup of haplogroup A4a1.

Further documentation could add substantially to this information, but at this point, none has been forthcoming.

In Summary – The Layers of Haplogroup A4

Full sequence testing was absolutely essential in sorting through the various participant results.  As demonstrated, the full sequence results were not always what was expected.

When full sequence tested, one participant was determined to be Haplogroup A10, which is not a subgroup of A4.  Haplogroup A10 is indeterminate and could be Native but could also be European.  Additional A10 results will hopefully be forthcoming in the future which will resolve this question.

None of the haplogroup A4a1 participants provide any direct evidence of Native ancestry, with the possible exception of one A4a1 kit whose matrilineal ancestors are from Mexico and who has not tested at a higher level.  Three A4a1 participants have confirmed European ancestry and one of those participants matches most of the others.  A4a1, with possibly one exception, appears to be European.  The A4a1 participant whose ancestors are from Mexico does not match any of the other participants and could eventually be classified as a subhaplogroup.

Haplogroup A4 itself appears to be divided into multiple subgroups, several of which may eventually form new sub-haplogroups based on their clusters of mutations.

There is clearly a European and a Chinese A4 grouping.  The European group is broken into two subgroups, one of which is Jewish.

In the Americas, there are several A4 subgroups, including:

  • Virginia – indeterminate whether Native
  • Colombia – likely Native
  • California – likely Native
  • Puerto Rico (2 groups) – very likely Native

There are also 5 outliers who don’t match others within the group, hailing from:

  • Costa Rica – likely Native
  • Mexico (2) – likely Native
  • Honduras – matching several confirmed Native people in multiple tribes at the HVR1 level
  • Honduras – likely Native

A4 grid v2

Note: Undet, short for undetermined, means that the results could be Native or European but available evidence has not been able to differentiate between those alternatives today.

*A4 needs to be further divided into additional haplogroup subgroups.

Dedication

Obviously, a study of this complexity couldn’t be done without the many resources I’ve mentioned and probably some that I’ve forgotten.  I thank everyone who contributed and continues to contribute.  I also want to thank the people who contributed to the funding for participant testing.  We could not have done this without your contributions in combination with the discounts offered by Family Tree DNA.

However, the most important resource is the participants and their willingness to share – their DNA, their research and their family stories.  During this project, two of our participants have passed away.  I would like to take this opportunity to dedicate this research to them, and I hope they know that their DNA keeps on giving.  This is their legacy.

Acknowledgements

I would like to thank Ian Logan for his assistance with haplogroup designation, Family Tree DNA for testing support and discounts, my project co-administrator, Marie Rundquist, Bennett Greenspan, Dr. Michelle Fiedler and Dr. David Pike for paper review.

______________________________________________________________

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2013 Family Tree DNA Conference Day 2

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14

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning.  I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well.  It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA.  “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.”  Smart woman, and thankfully for us, he went.  But he had a roadblock.  He felt there was a possibility that he could use the Y chromosome to solve the roadblock.  Bennett called the author of one of the two papers published at that time, Michael Hammer.  He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport.  He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done.  Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.”  Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.”  Let’s just say Bennett was no longer unemployed and the rest, as they say, is history.  With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Bennett day 2 intro

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences.  He says he doesn’t think we’re crazy.  I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy.  But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something.  He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Hammer scroll

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density.  People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion.  They did find that most basic structure of R tree did come from the near east.  They looked at P311 as marker for expansion into Europe, wherever it was.  Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time.  However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture.  If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature.  There were 4 primary locations with skeletal remains.  There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

hammer ancient y

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

hammer backbone

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago.  This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men?  What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

  • U106 is clustered in Germany
  • L21 clustered in the British Isles
  • U152 has an Alps epicenter

hammer post neolithic epicenters

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

hammer hap k

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

hammer r and q in europe

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe.  If you are shaking your head right about now and saying “huh?”…so were we.

Hammer hap r dist

Here is Dr. Hammer’s revised map of haplogroup dispersion.

hammer haplogroup dispersion map

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21.  For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs.  The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps.  She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

marja

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate.  The administrator’s role has also changed on social media as opposed to just a FTDNA project admin.  Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members.  They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.”  He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15.  He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster.  With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern.   They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree.  Tools don’t matter if the data isn’t there.  In order to utilize the genealogy aspect, the genealogy info needs to be there.   Will be enhancing the GEDCOM viewer.  New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available.  This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA.  They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing.  Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness.  This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

  • Commitment to take genetic genealogy to the next level
  • Y draft tree
  • Constant updates to official tree
  • Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree.  This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree?  When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement.  For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing.  One child may inherit as little as 20% of the X and another 90%.  Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1.  Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done.  New things will be rolling out in first and second quarter of next year.”  Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

  • CLIA
  • CAP
  • AABB
  • NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time.  This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013.  Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now.  Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013.  Their target audience was twofold, genetic genealogy in general and also the Irish people.  They posted things periodically to keep people interested.  They also created a Facebook page.  They announced free (sponsored) DNA tests and the traffic increased a great deal.  Today ISOGG has a free DNA wiki page too.  They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days.  It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views.  Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test.  That’s his minute or two of fame!  I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published.  It’s free, open access, web based and the author retains the copyright..  www.surnamedna.com

Conceived in 2012, the first article was published in January 2013.  Three papers published to date.

Encourage administrators to write and publish their research.  This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive.  Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important.  It is a critical review, a keen eye and an encouraging tone.  This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person.  We discussed how to effectively use mtdna results and what they really mean.  And you just never know what you’re going to discover.  Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line.  WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments.  As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks.  We took a few more photos with our friends and left looking forward to next year’s conference.  Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike.  Front row, left to right, me and Bennett Greenspan.

Goodbyes

See y’all next year!!!

______________________________________________________________

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2013 Family Tree DNA Conference Day 1

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8

This article is probably less polished than my normal articles.  I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write.  So you’re getting a spruced up version of my notes.  There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do.  Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry.  Max thought about this and said, really, not.  Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years.  The list included about 20 or so early adopters.  They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

Plaque Max and Me 2013

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators.  A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved.  When Max noted the admins who were leaders and are no longer with us, he could barely speak.  There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett remarks

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming.  Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time.  Her list of degrees would take a page or so.  She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card.  Then two months ago, Amy wound up sitting next to Max on another airplane.  It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers.  You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy?  How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here.  There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013.  I blogged about this at the time.

She spoke a bit about the history of this issue.

Mcguire

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA?  This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together.  Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor.  Is this a good thing or a bad thing?  Some feel that it’s unethical and an invasion of the privacy of the father.  But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved.  DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely.  Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907.  These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation.  “Three generations of imbeciles is enough.”  I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names.  The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived.  Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options.  53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release.  She notes that these were highly motivated people enrolled in a clinical study.  Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant.  Most people said they would participate if they were simply asked.  So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this.  I know several people who refused to participate in a research study because their results would not be returned to them personally.  All they wanted was information and to be treated respectfully.

What  the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well.  What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status.  It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA.  He has two children.  How does this affect his children?  Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information.  Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”.  Henrietta Lacks was a poor African-American woman with ovarian cancer.  At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research.  She was never informed or released anything, but then they were following the protocols of the time.  From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished.  The genome was eventually fully sequenced and published.  Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family?  And how does or should this affect policy?

How does this affect genetic genealogy?  Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics?  Should you have to talk to family members before anyone DNA tests?  Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy?  How about when the original tester dies?  Who has what rights and interests?  What about the unborn?  What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components.  Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over.  However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test.  Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved.  However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

Villars

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well.  This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents.  Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project.  More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years.  More than 360 ancient samples were collected across several different time periods.  There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially.  That’s for sure.  “We are reshaping the tree in an enormous way.”  What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year.  The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree.  Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.”  This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging.  I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA.  Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population.  This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America.  Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years.  Papers are coming within the next year about this.

They anticipate that interest will double within the next year.  They expect that based on recent discoveries, the 2015 Y tree will be much larger yet.  Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.”  The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science.  Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement.  He contacted his birth mother as an adult.  She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not.  Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’  With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4th grandparent by process of elimination.  While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA.    Here, Matt is discussing his children’s inheritance.

Matt dexter

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why.  Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous.  The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds.  Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue.  Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives.  This means that FTDNA’s Jewish “correction” seems to be working quite well.  Of course, they do have a great family group with which to calibrate their product.  Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish.  The non-Jewish group had almost exactly the opposite results.

  • Jewish people have from 1500-2100 matches.
  • Interfaith 700-1100 (Jewish and non)
  • NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project.  Jewish people match both Jewish and Interfaith families.  NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting.  This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried.  One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions.  Furthermore, the Jewish community has been endogamous longer than some of the other groups.  Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable.  I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central.  In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

 Estes Indian Princess photo

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held.  There were several topics.  Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended.  We had a wide range of expertise in the group and answered many questions.  One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well.  In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups.  This means they are listed on the “tree.”  So sometimes public and private can simply be a matter of timing and discovery.

FTDNA roundtable 2013

Here’s Bennett leading another roundtable discussion.

roundtable bennett

Session 7 – Dr. David Mittleman

Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur.  He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition.  He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology.  Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y.  It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well.  Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers.  This is not a test that a new customer would ever order.  The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

tech row

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit.  We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time.  We all bring food or drink and sometimes pitch in to rent the room.  We also spill out into the hallways where our impromptu “meetings” generally happen.  And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see.  Do we know how to party or what???

Here’s Linda Magellan working hard during the reception.  I think she’s ordering the Big Y actually.  We had several orders placed by admins during the conference.

magellan.jpg

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

______________________________________________________________

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