Concepts – The Faces of Endogamy

Recently, while checking Facebook, I saw this posting from my friend who researches in the same Native admixed group of families in North Carolina and Virginia that I do. Researchers have been trying for years to sort through these interrelated families. As I read Justin’s post, I realized, this is a great example of endogamy and often how it presents itself to genealogists.

I match a lot of people from the Indian Woods [Bertie County, NC] area via DNA, with names like Bunch, Butler, Mitchell, Bazemore, Castellow, and, of course, Collins. While it’s hard to narrow in on which family these matching segments come from, I can find ‘neighborhoods’ that fit the bill genetically. This [census entry] is from near Quitsna in 1860. You see Bunch, Collins, Castellow, Carter, and Mitchell in neighboring households.

Which begs the question, what is endogamy, do you have it and how can you tell?

Definition

Endogamy is the practice or custom or marrying within a specific group, population, geography or tribe.

Examples that come to mind are Ashkenazi Jews, Native Americans (before European and African admixture), Amish, Acadians and Mennonite communities.

Some groups marry within their own ranks due to religious practices. Jewish, Amish and Mennonite would fall under this umbrella. Some intermarry due to cultural practices, such as Acadians, although their endogamy could also partly be attributed to their staunch Catholic beliefs in a primarily non-Catholic region. Some people practice endogamy due to lack of other eligible partners such as Native Americans before contact with Europeans and Africans.  People who live on  islands or in villages whose populations were restricted geographically are prime candidates for endogamy.

In the case of Justin’s group of families who were probably admixed with Native, European and African ancestors, they intermarried because there were socially no other reasonable local options. In Virginia during that timeframe, mixed race marriages were illegal. Not only that, but you married who lived close by and who you knew – in essence the neighbors who were also your relatives.

Endogamy and Genetic Genealogy

In some cases, endogamy is good news for the genealogist. For example, if you’re working with Acadian records and know which Catholic church your ancestors attended. Assuming those church records still exist, you’re practically guaranteed that you’ll find the entire family because Acadians nearly always married within the Acadian community, and the entire Acadian community was Catholic. Catholics kept wonderful records. Even when the Acadians married a Native person, the Native spouse is almost always baptized and recorded with a non-Native name in the Catholic church records, which paved the way for a Catholic marriage.

In other cases, such as Justin’s admixed group, the Brethren who notoriously kept no church records or the Jewish people whose records were largely destroyed during the Holocaust, endogamy has the opposite effect – meaning that actual records are often beyond the reach of genealogists – but the DNA is not.

It’s in cases like this that people reach for DNA to help them find their families and connections.

What Does Endogamy Look Like?

If you know nothing about your heritage, how would you know whether you are endogamous or not? What does it look like? How do you recognize it?

The answer is…it depends. Unfortunately, there’s no endogamy button that lights up on your DNA results, but there are a range of substantial clues.  Let’s divide up the question into pieces that make sense and look at a variety of useful tools.

Full or Part?

First of all, fully and partly endogamous ancestry, and endogamy from different sources, has different signs and symptoms, so to speak.

A fully endogamous person, depending on their endogamy group, may have either strikingly more than average autosomal DNA matches, or very few.

Another factor will be geography, where you live, which serves to rule out some groups entirely. If you live in Australia, your ancestors may be European but they aren’t going to be Native American.

How many people in your endogamous group that have DNA tested is another factor that weighs very heavily in terms of what endogamy looks like, as is the age of the group. The older the group, generally the more descendants available to test although that’s not always the case. For example warfare, cultural genocide and disease wiped out many or most of the Native population in the United States, especially east of the Mississippi and particularly in the easternmost seaboard regions.

Because of the genocide perpetrated upon the Jewish people, followed by the scattering of survivors, Jewish descendants are inclined to test to find family connections. Jewish surnames may have been changed or not adopted in some cases until late, in the 1800s, and finding family after displacement was impossible in the 1940s for those who survived.

Let’s look at autosomal DNA matches for fully and partly endogamous individuals.

Jewish people, in particular Ashkenazi, generally have roughly three times as many matches as non-endogamous individuals.

Conversely, because very few Native people have tested, Native testers, especially non-admixed Native individuals, may have very few matches.

It’s ironic that my mother, the last person listed, with two endogamous lines, still has fewer matches than I do, the first person listed.  This is because my father has deep colonial roots with lots of descendants to test, and my mother has recent immigration in her family line – even though a quarter of her ancestry is endogamous.

To determine whether we are looking at endogamy, sometimes we need to look for other clues.

There are lots of ways to discover additional clues.

Surnames

Is there a trend among the surnames of your matches?

At the top of your Family Finder match page your three most common surnames are displayed.

A fully endogamous Jewish individual’s most common surnames are shown above. If you see Cohen among your most common surnames, you are probably Jewish, given that the Kohanim have special religious responsibilities within the Jewish faith.

Of course, especially with autosomal DNA, the person’s current surname may not be indicative, but there tends to be a discernable pattern with someone who is highly endogamous. When someone who is fully endogamous, such as the Jewish population, intermarries with other Jewish people, the surnames will likely still be recognizably Jewish.

Our Jewish individual’s first matching page, meaning his closest matches, includes the following surnames:

  • Cohen
  • Levi
  • Bernstein
  • Kohn
  • Goldstein

The Sioux individual only has 137 matches, but his first page of matches includes the following surnames:

  • Sunbear
  • Deer With Horns
  • Eagleman
  • Yelloweyes
  • Long Turkey
  • Fire
  • Bad Wound
  • Growing Thunder

These surnames are very suggestive of Native American ancestry in a tribe that did not adopt European surnames early in their history. In other words, not east of the Mississippi.

At Family Tree DNA, every person has the opportunity to list their family surnames and locations, so don’t just look at the tester’s surname, but at their family surnames and locations too. The Ancestral Surname column is located to the far right on the Family Finder matches page. If you can’t see all of the surnames, click on the person’s profile picture to see their entire profile and all of the surnames they have listed.

Please note that you can click to enlarge all graphics.

If you haven’t listed your family surnames, now would be a good time. You can do this by clicking on the orange “Manage Personal Information” link near your profile picture on the left of your personal page.

The orange link takes you to the account settings page. Click on the Genealogy tab, then on surnames. Be sure to click the orange “save” when you are finished.

Partial Endogamy

Let’s take a look at a case study of someone who is partially endogamous, meaning that they have endogamous lines, but aren’t fully endogamous. My mother, who is the partially endogamous individual with 1231 matches is a good example.

Mother is a conglomeration of immigrants. Her 8 great-grandparents break down as follows:

In mother’s case, a few different forces are working against each other. Let’s take a look.

The case of recent immigration from the Netherlands, in the 1850s, would serve to reduce mother’s matches because there has been little time in the US for descendants to accrue and test. Because people in the Netherlands tend to be very reluctant about DNA testing, very few have tested, also having the effect of reducing her number of matches.

Mother’s Dutch ancestors were Mennonites, an endogamous group within the Netherlands, which would further reduce her possibilities of having matches on these lines since she would be less likely to match the general population and more likely to match individuals within the endogamous group. If people from the Mennonite group tested, she would likely match many within that group. In other words, for her to find Dutch matches, people descended from the endogamous Dutch Mennonite population would need to test. At Family Tree DNA, there is a Low Mennonite Y DNA and Anabaptist autosomal DNA project both, but these groups tend to attract the Mennonites that migrated to Russia and Poland, not the group that stayed in the Netherlands. Another issue, at least in mother’s case, is that her Mennonite relatives “seem” to have been later converts, not part of the original Mennonite group – although it’s difficult to tell for sure in the records that exist.

Mother’s Kirsch and Drechsel ancestors were also recent immigrants in the 1850s, from Germany, with very few descendants in the US today. The villages from where her Kirsch ancestors immigrated, based on the church records, did tend to be rather endogamous.  However, that endogamy would only have reached back about 200 years, as far as the 30 Years’ War when that region was almost entirely, if not entirely, depopulated. So while there was recent endogamy, there (probably) wasn’t deep endogamy. Of course, it would require someone from those villages to test so mother could have matches before endogamy can relevant. DNA testing is not popular in Germany either.

Because of recent immigration, altogether one half of mother’s heritage would reduce her number of matches significantly. Recent immigrants simply have fewer descendants to test.

On the other hand, mother’s English line has been in the US for a long time, some since the Mayflower, so she could expect many matches from that line, although they are not endogamous. If you’re thinking to yourself that deep colonial ancestry can sometime mimic endogamy in terms of lots of matches, you’re right – but still not nearly to the level of a fully endogamous Jewish person.

Mother’s Acadian line has been settled in North America in Nova Scotia since the early 1600s, marrying within their own community, mixing with the Native people and then scattering in different directions after 1755 when they were forcibly removed. Acadians, however, tended to remain in their cultural groups, even after relocation. Many Acadian descendants DNA test and all Acadians descend from a limited and relatively well documented original population. That level of documentation is very unusual for endogamous groups. Acadian surnames are well known and are French. The best Acadian genealogical resource in is Karen Theriot’s comprehensive tree on Rootsweb in combination with the Mothers of Acadia DNA project at Family Tree DNA. I wish there was a similar Fathers of Acadia project.

Mother’s Brethren line is much less well documented due to a lack of church records. The Brethren community immigrated in the early 1700s from primarily Switzerland and Germany, was initially relatively small, lived in clusters in specific areas, traveled together and did not marry outside the Brethren faith. Therefore, Brethren heritage and names also tend to be rather specific, but not as recognizable as Acadian names. After all, the Brethren were German/Swiss and in mother’s case, she also has another 1/4th of her heritage that are recently immigrated Germans – so differentiating one German group from the other can be tricky. The only way to tell Brethren matches from other German matches is that the Brethren also tend to match each other.

In Common With

If you notice a group of similar appearing surnames, use the ICW (in common with) tool at Family Tree DNA to see who you match in common with those individuals. If you find that you match a whole group of people with similar surnames or geography, contact your matches and ask if they know any of the other matches and how they might be related. I always recommend beginning with your closest matches because your common ancestor is likely to be closer in time than people who match you more distantly.

In the ICW match example below, all of the matches who do show ancestral surnames include Acadian surnames and/or locations.

Acadians, of course, became Cajuns in Louisiana where one group settled after their displacement in Nova Scotia. The bolded surnames match surnames on the tester’s surname list.

The ICW tools work particular well if you know of or can identify one person who matches you within a group, or simply on one side of your family.

Don Worth’s Autosomal DNA Segment Analyzer is an excellent tool to genetically group your matches by chromosome. It’s then easy to use the chromosome browser at Family Tree DNA to see which of these people match you on the same segments. These tools work wonderfully together.

The group above is an Acadian match group. By hovering over the match names, you can see their ancestral surnames which make the Acadian connection immediately evident.

The Matrix

In addition to seeing the people you match in common with your matches by utilizing the ICW tool at Family Tree DNA, you can also utilize the Matrix tool to see if your matches also match each other. While this isn’t the same as triangulation, because it doesn’t tell you if they match each other on the same exact segment, it’s a wonderful tool, because in the absence of cooperation or communication from your matches to determine triangulation between multiple people, the Matrix is a very good secondary approach and often predicts triangulation accurately.

In the Matrix, above, the blue boxes indicates that these individuals (from your match list) also match each other.

For additional information on various autosomal tools available for your use, click here to read the article, Nine Autosomal Tools at Family Tree DNA.

MyOrigins

Everyone who takes the Family Finder test also receives their ethnicity estimates on the MyOrigins tab.

In the case of our Jewish friend, above, his MyOrigins map clearly shows his endogamous heritage. He does have some Middle Eastern region admixture, but I’ve seen Ashkenazi Jewish results that are 100% Ashkenazi Jewish.

The same situation exists with our Sioux individual, above. Heavily Native, removing any doubt about his ancestry.

However, mother’s European admixture blends her MyOrigins results into a colorful but unhelpful European map, at least in terms of determining whether she is endogamous or has endogamous lines.

European endogamous admixture, except for Jewish heritage, tends to not be remarkable enough to stand out as anything except European heritage utilizing ethnicity tools. In addition, keep in mind that DNA testing in France for genealogy is illegal, so often there is a distinct absence in that region that is a function of the lack of testing candidates. Acadians may not show up as French.

Ethnicity testing tends to be excellent at determining majority ethnicity, and determining differences between continental level ethnicity, but less helpful otherwise. In terms of endogamy, Jewish and Native American tend to be the two largest endogamous groups that are revealed by ethnicity testing – and for that purpose, ethnicity testing is wonderful.

Y and Mitochondrial DNA and Endogamy

Autosomal tools aren’t the only tools available to the genetic genealogist. In fact, if someone is 100% endogamous, or even half endogamous, chances are very good that either the Y DNA for males on the direct paternal line, or the mitochondrial DNA for males and females on the direct matrilineal line will be very informative.

On the pedigree chart above, the blue squares represent the Y DNA that the father contributes to only his sons and the red circles represent the mitochondrial DNA (mtDNA) that mothers contribute to both genders of their children, but is only passed on by the females.

By utilizing Y and mtDNA testing, you can obtain a direct periscope view back in time many generations, because the Y and mitochondrial DNA is preserved intact, except for an occasional mutation. Unlike autosomal DNA, the DNA of the other parent is not admixed with the Y or mitochondrial DNA. Therefore, the DNA that you’re looking at is the DNA of your ancestors, generations back in time, as opposed to autosomal DNA which can only reliably reach back 5 or 6 generations in terms of ethnicity because it gets halved in every generation and mixed with the DNA of the other parent.

With autosomal DNA, we can see THAT it exists, but not who it came from.  With Y and mtDNA DNA, we know exactly who in your tree that specific DNA came from

We do depend on occasional Y and mtDNA mutations to allow our lines to accrue enough mutations to differentiate us from others who aren’t related, but those mutations accrue very slowly over hundreds to thousands of years.

Our “clans,” over time, are defined by haplogroups and both our individual matches and our haplogroup or clan designation can be very useful. Your haplogroup will indicate whether you are European, Jewish, Asian, Native American or African on the Y and/or mtDNA line.

In cases of endogamous groups where the members are known to marry only within the group, Y and mtDNA can be especially helpful in identifying potential families of origin.  This is evident in the Mothers of Acadia DNA project as well a particular brick wall I’m working on in mother’s Brethren line. Success, of course, hinges on members of that population testing their Y or mtDNA and being available for comparison.

Always test your Y (males only) and mitochondrial DNA (males and females.) You don’t know what you don’t know, and sometimes those lines may just hold the key you’re looking for. It would be a shame to neglect the test with the answer, or at least a reasonably good hint! Stories of people discovering their ethnic heritage, at least for that line, by taking a Y or mtDNA test are legendary.

Jewish Y and Mitochondrial DNA

Fortunately, for genetic genealogists, Jewish people carry specific sub-haplogroups that are readily identified as Jewish, although carrying these subgroups don’t always mean you’re Jewish. “Jewish” is a religion as well as a culture that has been in existence as an endogamous group long enough in isolation in the diaspora areas to develop specific mutations that identify group members. Furthermore, the Jewish people originated in the Near East and are therefore relatively easy, relative to Y and mtDNA, to differentiate from the people native to the regions outside of the Near East where groups of Jewish people settled.

The first place to look for hints of your heritage is your main page at Family Tree DNA. First, note your haplogroups and any badges you may have in the upper right hand corner of your results page.

In this man’s case, the Cohen badge is this man’s first clue that he matches or closely matches the known DNA signature for Jewish Cohen men.

Both Y DNA and mitochondrial DNA results have multiple tabs that hold important information.

Two tabs, Haplogroup Origins and Ancestral Origins are especially important for participants to review.

The Haplogroup Origins tab shows a combination of academic research results identifying your haplogroup with locations, as well as some Ancestral Origins mixed in.

A Jewish Y DNA Haplogroup Origins page is shown above.

The Ancestral Origins page, below, reflects the location where your matches SAY their most distant direct matrilineal (for mtDNA) or patrilineal (for Y DNA) ancestors were found. Clearly, this information can be open to incorrect interpretation, and sometimes is. For example, people often don’t understand that “most distant maternal ancestor” means the direct line female on your mother’s mother’s mother’s side.  However, you’re not looking at any one entry. You are looking instead for trends.

The Ancestral Origins page for a Jewish man’s Y DNA is shown above.

The Haplogroup Origins page for Jewish mitochondrial DNA, below, looks much the same, with lots of Ashkenazi entries.

The mitochindrial Ancestral Origins results, below, generally become more granular and specific with the higher test levels. That’s because the more general results get weeded out a higher levels. Your closest matches at the highest level of testing are the most relevant to you, although sometimes people who tested at lower levels would be relevant, if they upgraded their tests.

Native American Y and Mitochondrial DNA

Native Americans, like Jewish people, are very fortunate in that they carry very specific sub-haplogroups for Y and mitochondrial DNA. The Native people had a very limited number of founders in the Americas when they originally arrived, between roughly 10,000 and 25,000 years ago, depending on which model you prefer to use. Descendants had no choice but to intermarry with each other for thousands of years before European and African contact brought new genes to the Native people.

Fortunately, because Y and mtDNA don’t mix with the other parents’ DNA, no matter how admixed the individual today, testers’ Y and mtDNA still shows exactly the origins of that lineage.

Native American Y DNA shows up as such on the Haplogroup Origins and Ancestral Origins tabs, as illustrated below.

The haplogroup assigned is shown along with a designation as Native on the Haplogroup Origins and Ancestral Origins pages. The haplogroup is assigned through DNA testing, but the Native designation and location is entered by the tester. Do be aware that some people record the fact that their “mother’s side” or “father’s side” is reported to have a Native ancestor, which is not (necessarily) the same as the matrilineal or patrilineal line. Their “mother’s side” and “father’s side” can have any number of both male and female ancestors.

If the tester’s haplogroup comes back as non-Native, the erroneous Native designation shows up in their matches Ancestral Origins page as “Native,” because that is what the tester initially entered.  I wrote about this situation here, but there isn’t much that can be done about this unless the tester either realizes their error or thinks to go back and change their designation from Native American when they realize the DNA does not support the family story, at least not on this particular line line. Erroneous labeling applies to both Y and mtDNA.

Native Y DNA falls within a subset of haplogroups C and Q. However, most subgroups of C and Q are NOT Native, but are European or Asian or in one case, a subgroup of haplogroup Q is Jewish. This does NOT means that the Jewish people and the Native people are related within many thousands of years. It means they had a common ancestor in Asia thousands of years ago that gave birth to both groups. In essence, one group of the original Q moved east and eventually into the Americas, and one moved west, winding up in Europe. Today, mutations (SNPs) have accrued to each group that very successfully differentiate them from one another. In order to determine whether your branch of C or Q is Native, you must take additional SNP tests which further identify your haplogroup – meaning which branch of haplogroup C or Q that you belong to.

Native Americans Y-DNA, to date, must fall into a subset of haplogroup C-P39, a subgroup of C-M217 or Q-M3, Q-M971/Z780 or possibly Q-B143 (ancient Saqquq in Greenland), according to The study of human Y chromosome variation through ancient DNA. Each of these branches also has sub-branches except for Q-B143 which may be extinct. This isn’t to say additional haplogroups or sub-haplogroups won’t be discovered in the future. In fact, haplogroup O is a very good candidate, but enough evidence doesn’t yet exist today to definitively state that haplogroup O is also Native.

STR marker testing, meaning panels of markers from 12-111, provides all participants with a major haplogroup estimate, such as C or Q. However, to confirm the Y DNA haplogroup subgroup further down the tree, one must take additional SNP testing. I wrote an article about the differences between STR markers and SNPs, if you’d like to read it, here and why you might want to SNP test, here.

Testers can purchase individual SNPs, such as the proven Native SNPs, which will prove or disprove Native ancestry, a panel of SNPs which have been combined to be cost efficient (for most haplogroups), or the Big Y test which scans the entire Y chromosome and provides additional matching.

When financially possible, the Big Y is always recommended. The Big Y results for the Sioux man showed 61 previously unknown SNPs. The Big Y test is a test of discovery, and is how we learn about new branches of the Y haplotree. You can see the most current version of the haplogroup C and Q trees on your Family Tree DNA results page or on the ISOGG tree.

Native mitochondrial DNA can be determined by full sequence testing the mitochondrial DNA. The mtPlus test only tests a smaller subset of the mtDNA and assigns a base haplogroup such as A. To confirm Native ancestry, one needs to take the full sequence mitochondrial test to obtain their full haplogroup designation which can only be determined by testing the full mitochondrial sequence.

Native mitochondrial haplogroups fall into base haplogroups A, B, C, D, X and M, with F as a possibility. The most recent paper on Native Mitochondrial DNA Discoveries can be found here and a site containing all known Native American mitochondrial DNA haplogroups is here.

Not Native or Jewish

Unfortunately, other endogamous groups aren’t as fortunate as Jewish and Native people, because they don’t have haplogroups or subgroups associated with their endogamy group. However, that doesn’t mean there aren’t a few other tools that can be useful.

Don’t forget about your Matches Maps. While your haplogroup may not be specific enough to identify your heritage, your matches may hold clues. Each individual tester is encouraged to enter the identity of their most distant ancestor in both their Y (if male) and mtDNA lines. Additionally, on the bottom of the Matches Map, testers can enter the location where that most distant ancestor is found. If you haven’t done that yet, this is a good time to do that too!

When looking at your Matches Map, clusters and distribution of your matches most distant ancestor locations are important.

This person’s matches, above, suggest that they might look at the history of Nova Scotia and French immigrants – and the history of Nova Scotia is synonymous with the Acadians but the waterway distribution can also signal French, but not Acadian. Native people are also associated with Nova Scotia and river travel. The person’s haplogroup would add to this story and focus on or eliminate some options.

This second example above, suggests the person look to the history of Norway and Sweden, although their ancestor, indicated by the white balloon, is from Germany. If the tester’s genealogy is stuck in the US, this grouping could be a significant clue relative to either recent or deeper history. Do they live in a region where Scandinavian people settled? What history connects the region where the ancestor is found with Scandinavia?

This third example, above, strongly suggests Acadian, given the matches restricted to Nova Scotia, and, as it turns out, this individual does have strong Acadian heritage. Again, their haplogroup is additionally informative and points directly to the European or Native side of the Acadian heritage for this particular line.

In Summary

Sometimes endogamy is up front and in your face, evident from the minute your DNA results are returned. Other times, endogamous lines in ethnically mixed individuals reveal themselves more subtly, like with my friend Justin. Fortunately, the different types of DNA tests and the different tools at our disposal each contain the potential for a different puzzle piece to be revealed. Many times, our DNA results need to be interpreted with some amount of historical context to reveal the story of our ancestors.

When I first discovered that my mother’s line was Acadian, my newly found cousin said to me, “If you’re related to one Acadian, you’re related to all Acadians.” He wasn’t kidding. For that very reason, endogamous genetic genealogy is tricky at best and frustrating at worst.

When possible, Y and mtDNA is the most definitive answer, because the centuries or millennia or intermarriage don’t affect Y and mtDNA. If you are Jewish or Native on the appropriate lines for testing, Y and mtDNA is very definitive. If you’re not Jewish or Native on your Y or mtDNA lines, check your matches for clues, including surnames, Haplogroup and Ancestral Origins, and your Matches Map.

Consider building a DNA pedigree chart that documents each of your ancestors’ Y and mtDNA for lines that aren’t revealed in your own test. The story of Y and mtDNA is not confused or watered down by admixture and is one of the most powerful, and overlooked, tools in the genealogist’s toolbox.

Autosomal DNA when dealing with endogamy can be quite challenging, even when working with well-documented Acadian genealogy – because you truly are related to everyone.  Trying to figure out which DNA segments go with, or descend from, which ancestors reaching back several generations is the ultimate jigsaw puzzle. Often, I work with a specific segment and see how far back I can track that segment in the ancestral line of me and my matches. On good days, we arrive at one common ancestor. On other days, we arrive at dead ends that are not a common ancestor – which means of course that we keep searching genealogically – or pick a different segment to work with.

When working with autosomal DNA of endogamous individuals (or endogamous lines of partially endogamous individuals,) I generally use a larger matching threshold than with non-endogamous, because we already know that these people will have segments that match because they descend from the same populations. In general, I ignore anything below 10cM and often below 15cM if I’m looking for a genealogical connection in the past few generations. If I’m simply mapping DNA to ancestors, then I use the smaller segments, down to either 7 or 5cM. If you want to read more about segments that are identical by chance (also known as false matches,) identical by population and identical by descent (genealogically relevant matches,) click here.

The good news about endogamy is that its evidence persists in the DNA of the population, literally almost forever, as long as that “population” exists in descendants – meaning you can find it!  In my case, my Acadian brick wall would have fallen much sooner had I know what endogamy looked like and what I was seeing actually meant.

A perfect example of persistent endogamy is that our Sioux male today, along with other nearly fully Native people, including people from South America, matches the ancient DNA of the Anzick child who died and was buried in Montana 12,500 years ago.

These people don’t just match on small segments, but at contemporary matching levels at Family Tree DNA and GedMatch, both.  One individual shows a match of 109 total cM and a single largest segment of DNA at 20.7 cM, a match that would indicate a contemporary relationship of between 3.5 and 4 generations distant – meaning 2nd to 3rd cousins. Clearly, that isn’t possible, but the DNA shared by Anzick Child and that individual today has been intact in the Native population for more than 12,500 years.

The DNA that Anzick Child carried is the same DNA that the Sioux people carry today – because there was no DNA from outside the founder population, no DNA to wash out the DNA carried by Anzick Child’s ancestors – the same exact ancestors of the Sioux and other Native or Native admixed people today.

While endogamy can sometimes be frustrating, the great news is that you will have found an entire population of relatives, a new “clan,” so to speak.  You’ll understand a lot more about your family history and you’ll have lots of new cousins!

Endogamy is both the blessing and the curse of genetic genealogy!

2016 Genetic Genealogy Retrospective

In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions.  I think genetic genealogy is maturing and has perhaps begun a new chapter.  Let’s take a look.

Vendors

Family Tree DNA

Family Tree DNA leads the pack this year with their new Phased Family Matches which utilizes close relatives, up to third cousins, to assign your matches to either maternal or paternal buckets, or both if the individual is related on both sides of your tree.

Both Buckets

They are the first and remain the only vendor to offer this kind of feature.

Phased FF2

Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members.  DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture.  Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group.  This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

2016-ancient-origins

You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch.  Family Tree DNA is working on a resolution to this problem.

I tested on the new Ancestry V2 chip, and while there is a difference in how much matching DNA I share with my matches as compared to the V1 chip, it’s not as pronounced as I expected. There is no need for people who tested on the earlier chip to retest.

Unfortunately, Ancestry has remained steadfast in their refusal to implement a chromosome browser, instead focusing on sales by advertising the ethnicity “self-discovery” aspect of DNA testing.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees.  In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

ancestry-common-ancestors

23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate.  It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site.  This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription.  Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

2016-myheritage-matches

For the record, I have 28 matches today at MyHeritage.

2016-myheritage-second-match

I found that my second closest match at MyHeritage is also at Ancestry.

2016-myheritage-at-ancestry

At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5th to 8th cousin, and MyHeritage estimates it as 2nd to 4th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files.  They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison.  Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed.  No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry.  MyHeritage also owns Geni.com.  One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model.  For a comparison of the two, check out Judy Russell’s articles, here and here.  Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is.  Let’s hope that 2017 brings both clarity and improvements.

Living DNA

Living DNA is a company out of the British Isles with a new test that purports to provide you with a breakdown of your ethnicity and the locations of your ancestral lines within 21 regions in the British Isles.  Truthfully, I’m very skeptical, but open minded.

They have had my kit for several weeks now, and testing has yet to begin.  I’ll write about the results when I receive them.  So far, I don’t know of anyone who has received results.

2016-living-dna

Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

That’s a vastly different model that the current approach taken by 23andMe and Ancestry where you relinquish your rights to the sale of your DNA when you sign up to test.  I like this new approach with complete transparency, allowing the customer to decide the fate of their DNA. I wrote about the Genos test and the results, here.

Third Parties

Individuals sometimes create and introduce new tools to assist genealogists with genetic genealogy and analysis.

I have covered these extensively over the years.

GedMatch, WikiTree, DNAGedcom.com and Kitty Cooper’s tools remain my favorites.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes.  Somehow, this makes me feel closer to them.  They’re not really gone, because they still exist in me and other descendants as well.

Roberta's ancestor map2

In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

ADSA Crumley cluster

GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

2016-gedmatch-triangulation-groups

I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name.  Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half.  These phased kits allow you to see your matches that come from that parent, only.  However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.”  In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings.  While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree.  While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article,  Putting DNA Results Into Action, for how to utilize their DNA Features.

2016-wikitree-peter-roberts

Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts.  WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools.  DNAGedcom does as well.  Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure.  Websites and everything that goes along with them aren’t free.  Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity.  Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same.  Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet.  For example, DNA testing is illegal in France.  Not to mention, genetic genealogy and population genetics is still a new and emerging field.  We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc.  Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?”  They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids.  Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more.  Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

Of course, the “Help” link is always a good place to start as are these articles, DNA Testing for Genealogy 101 and Autosomal DNA Testing 101.  These two articles should be “must reads” for everyone who has DNA tested, or wants to, for that matter.  Tips and Tricks for Contact Success is another article that is immensely helpful to people just beginning to reach out.

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

The Concepts Series

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical By Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Y DNA Matching and Connecting With Your Paternal Ancestor

Concepts – Downloading Autosomal Data From Family Tree DNA

Concepts – Managing Autosomal DNA Matches – Step 1 – Assigning Parental Sides

Concepts – Genetic Distance

Concepts – Relationship Predictions

Concepts – Match Groups and Triangulation

Concepts – Sorting Spreadsheets for Autosomal DNA

Concepts – Managing Autosomal DNA Matches – Step 2 – Updating Matching Spreadsheets, Bucketed Family Finder Matches and Pileups

Concepts – Why DNA Testing the Oldest Family Members Is Critically Important

Concepts – Undocumented Adoptions Versus Untested Y Lines

My blog isn’t the only resource of course.

Kelly Wheaton provides 19 free lessons in her Beginners Guide to Genetic Genealogy.

Other blogs I highly recommend include:

Excellent books in print that should be in every genetic genealogist’s library:

And of course, the ISOGG Wiki.

Online Conference Resources

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up.  Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource.  Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time!  A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised!  This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Genetic genealogy is and can only be a collaborative team sport.

Here’s wishing you many new cousins and discoveries in 2017.

Happy New Year!!!

2014 Top Genetic Genealogy Happenings – A Baker’s Dozen +1

It’s that time again, to look over the year that has just passed and take stock of what has happened in the genetic genealogy world.  I wrote a review in both 2012 and 2013 as well.  Looking back, these momentous happenings seem quite “old hat” now.  For example, both www.GedMatch.com and www.DNAGedcom.com, once new, have become indispensable tools that we take for granted.  Please keep in mind that both of these tools (as well as others in the Tools section, below) depend on contributions, although GedMatch now has a tier 1 subscription offering for $10 per month as well.

So what was the big news in 2014?

Beyond the Tipping Point

Genetic genealogy has gone over the tipping point.  Genetic genealogy is now, unquestionably, mainstream and lots of people are taking part.  From the best I can figure, there are now approaching or have surpassed three million tests or test records, although certainly some of those are duplicates.

  • 500,000+ at 23andMe
  • 700,000+ at Ancestry
  • 700,000+ at Genographic

The organizations above represent “one-test” companies.  Family Tree DNA provides various kinds of genetic genealogy tests to the community and they have over 380,000 individuals with more than 700,000 test records.

In addition to the above mentioned mainstream firms, there are other companies that provide niche testing, often in addition to Family Tree DNA Y results.

In addition, there is what I would refer to as a secondary market for testing as well which certainly attracts people who are not necessarily genetic genealogists but who happen across their corporate information and decide the test looks interesting.  There is no way of knowing how many of those tests exist.

Additionally, there is still the Sorenson data base with Y and mtDNA tests which reportedly exceeded their 100,000 goal.

Spencer Wells spoke about the “viral spread threshold” in his talk in Houston at the International Genetic Genealogy Conference in October and terms 2013 as the year of infection.  I would certainly agree.

spencer near term

Autosomal Now the New Normal

Another change in the landscape is that now, autosomal DNA has become the “normal” test.  The big attraction to autosomal testing is that anyone can play and you get lots of matches.  Earlier in the year, one of my cousins was very disappointed in her brother’s Y DNA test because he only had a few matches, and couldn’t understand why anyone would test the Y instead of autosomal where you get lots and lots of matches.  Of course, she didn’t understand the difference in the tests or the goals of the tests – but I think as more and more people enter the playground – percentagewise – fewer and fewer do understand the differences.

Case in point is that someone contacted me about DNA and genealogy.  I asked them which tests they had taken and where and their answer was “the regular one.”  With a little more probing, I discovered that they took Ancestry’s autosomal test and had no clue there were any other types of tests available, what they could tell him about his ancestors or genetic history or that there were other vendors and pools to swim in as well.

A few years ago, we not only had to explain about DNA tests, but why the Y and mtDNA is important.  Today, we’ve come full circle in a sense – because now we don’t have to explain about DNA testing for genealogy in general but we still have to explain about those “unknown” tests, the Y and mtDNA.  One person recently asked me, “oh, are those new?”

Ancient DNA

This year has seen many ancient DNA specimens analyzed and sequenced at the full genomic level.

The year began with a paper titled, “When Populations Collide” which revealed that contemporary Europeans carry between 1-4% of Neanderthal DNA most often associated with hair and skin color, or keratin.  Africans, on the other hand, carry none or very little Neanderthal DNA.

https://dna-explained.com/2014/01/30/neanderthal-genome-further-defined-in-contemporary-eurasians/

A month later, a monumental paper was published that detailed the results of sequencing a 12,500 Clovis child, subsequently named Anzick or referred to as the Anzick Clovis child, in Montana.  That child is closely related to Native American people of today.

https://dna-explained.com/2014/02/13/clovis-people-are-native-americans-and-from-asia-not-europe/

In June, another paper emerged where the authors had analyzed 8000 year old bones from the Fertile Crescent that shed light on the Neolithic area before the expansion from the Fertile Crescent into Europe.  These would be the farmers that assimilated with or replaced the hunter-gatherers already living in Europe.

https://dna-explained.com/2014/06/09/dna-analysis-of-8000-year-old-bones-allows-peek-into-the-neolithic/

Svante Paabo is the scientist who first sequenced the Neanderthal genome.  Here is a neanderthal mangreat interview and speech.  This man is so interesting.  If you have not read his book, “Neanderthal Man, In Search of Lost Genomes,” I strongly recommend it.

https://dna-explained.com/2014/07/22/finding-your-inner-neanderthal-with-evolutionary-geneticist-svante-paabo/

In the fall, yet another paper was released that contained extremely interesting information about the peopling and migration of humans across Europe and Asia.  This was just before Michael Hammer’s presentation at the Family Tree DNA conference, so I covered the paper along with Michael’s information about European ancestral populations in one article.  The take away messages from this are two-fold.  First, there was a previously undefined “ghost population” called Ancient North Eurasian (ANE) that is found in the northern portion of Asia that contributed to both Asian populations, including those that would become the Native Americans and European populations as well.  Secondarily, the people we thought were in Europe early may not have been, based on the ancient DNA remains we have to date.  Of course, that may change when more ancient DNA is fully sequenced which seems to be happening at an ever-increasing rate.

https://dna-explained.com/2014/10/21/peopling-of-europe-2014-identifying-the-ghost-population/

Lazaridis tree

Ancient DNA Available for Citizen Scientists

If I were to give a Citizen Scientist of the Year award, this year’s award would go unquestionably to Felix Chandrakumar for his work with the ancient genome files and making them accessible to the genetic genealogy world.  Felix obtained the full genome files from the scientists involved in full genome analysis of ancient remains, reduced the files to the SNPs utilized by the autosomal testing companies in the genetic genealogy community, and has made them available at GedMatch.

https://dna-explained.com/2014/09/22/utilizing-ancient-dna-at-gedmatch/

If this topic is of interest to you, I encourage you to visit his blog and read his many posts over the past several months.

https://plus.google.com/+FelixChandrakumar/posts

The availability of these ancient results set off a sea of comparisons.  Many people with Native heritage matched Anzick’s file at some level, and many who are heavily Native American, particularly from Central and South America where there is less admixture match Anzick at what would statistically be considered within a genealogical timeframe.  Clearly, this isn’t possible, but it does speak to how endogamous populations affect DNA, even across thousands of years.

https://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Because Anzick is matching so heavily with the Mexican, Central and South American populations, it gives us the opportunity to extract mitochondrial DNA haplogroups from the matches that either are or may be Native, if they have not been recorded before.

https://dna-explained.com/2014/09/23/analyzing-the-native-american-clovis-anzick-ancient-results/

Needless to say, the matches of these ancient kits with contemporary people has left many people questioning how to interpret the results.  The answer is that we don’t really know yet, but there is a lot of study as well as speculation occurring.  In the citizen science community, this is how forward progress is made…eventually.

https://dna-explained.com/2014/09/25/ancient-dna-matches-what-do-they-mean/

https://dna-explained.com/2014/09/30/ancient-dna-matching-a-cautionary-tale/

More ancient DNA samples for comparison:

https://dna-explained.com/2014/10/04/more-ancient-dna-samples-for-comparison/

A Siberian sample that also matches the Malta Child whose remains were analyzed in late 2013.

https://dna-explained.com/2014/11/12/kostenki14-a-new-ancient-siberian-dna-sample/

Felix has prepared a list of kits that he has processed, along with their GedMatch numbers and other relevant information, like gender, haplogroup(s), age and location of sample.

http://www.y-str.org/p/ancient-dna.html

Furthermore, in a collaborative effort with Family Tree DNA, Felix formed an Ancient DNA project and uploaded the ancient autosomal files.  This is the first time that consumers can match with Ancient kits within the vendor’s data bases.

https://www.familytreedna.com/public/Ancient_DNA

Recently, GedMatch added a composite Archaic DNA Match comparison tool where your kit number is compared against all of the ancient DNA kits available.  The output is a heat map showing which samples you match most closely.

gedmatch ancient heat map

Indeed, it has been a banner year for ancient DNA and making additional discoveries about DNA and our ancestors.  Thank you Felix.

Haplogroup Definition

That SNP tsunami that we discussed last year…well, it made landfall this year and it has been storming all year long…in a good way.  At least, ultimately, it will be a good thing.  If you asked the haplogroup administrators today about that, they would probably be too tired to answer – as they’ve been quite overwhelmed with results.

The Big Y testing has been fantastically successful.  This is not from a Family Tree DNA perspective, but from a genetic genealogy perspective.  Branches have been being added to and sawed off of the haplotree on a daily basis.  This forced the renaming of the haplogroups from the old traditional R1b1a2 to R-M269 in 2012.  While there was some whimpering then, it would be nothing like the outright wailing now that would be occurring as haplogroup named reached 20 or so digits.

Alice Fairhurst discussed the SNP tsunami at the DNA Conference in Houston in October and I’m sure that the pace hasn’t slowed any between now and then.  According to Alice, in early 2014, there were 4115 individual SNPs on the ISOGG Tree, and as of the conference, there were 14,238 SNPs, with the 2014 addition total at that time standing at 10,213.  That is over 1000 per month or about 35 per day, every day.

Yes, indeed, that is the definition of a tsunami.  Every one of those additions requires one of a number of volunteers, generally haplogroup project administrators to evaluate the various Big Y results, the SNPs and novel variants included, where they need to be inserted in the tree and if branches need to be rearranged.  In some cases, naming request for previously unknown SNPs also need to be submitted.  This is all done behind the scenes and it’s not trivial.

The project I’m closest to is the R1b L-21 project because my Estes males fall into that group.  We’ve tested several, and I’ll be writing an article as soon as the final test is back.

The tree has grown unbelievably in this past year just within the L21 group.  This project includes over 700 individuals who have taken the Big Y test and shared their results which has defined about 440 branches of the L21 tree.  Currently there are almost 800 kits available if you count the ones on order and the 20 or so from another vendor.

Here is the L21 tree in January of 2014

L21 Jan 2014 crop

Compare this with today’s tree, below.

L21 dec 2014

Michael Walsh, Richard Stevens, David Stedman need to be commended for their incredible work in the R-L21 project.  Other administrators are doing equivalent work in other haplogroup projects as well.  I big thank you to everyone.  We’d be lost without you!

One of the results of this onslaught of information is that there have been fewer and fewer academic papers about haplogroups in the past few years.  In essence, by the time a paper can make it through the peer review cycle and into publication, the data in the paper is often already outdated relative to the Y chromosome.  Recently a new paper was released about haplogroup C3*.  While the data is quite valid, the authors didn’t utilize the new SNP naming nomenclature.  Before writing about the topic, I had to translate into SNPese.  Fortunately, C3* has been relatively stable.

https://dna-explained.com/2014/12/23/haplogroup-c3-previously-believed-east-asian-haplogroup-is-proven-native-american/

10th Annual International Conference on Genetic Genealogy

The Family Tree DNA International Conference on Genetic Genealogy for project administrators is always wonderful, but this year was special because it was the 10th annual.  And yes, it was my 10th year attending as well.  In all these years, I had never had a photo with both Max and Bennett.  Everyone is always so busy at the conferences.  Getting any 3 people, especially those two, in the same place at the same time takes something just short of a miracle.

roberta, max and bennett

Ten years ago, it was the first genetic genealogy conference ever held, and was the only place to obtain genetic genealogy education outside of the rootsweb genealogy DNA list, which is still in existence today.  Family Tree DNA always has a nice blend of sessions.  I always particularly appreciate the scientific sessions because those topics generally aren’t covered elsewhere.

https://dna-explained.com/2014/10/11/tenth-annual-family-tree-dna-conference-opening-reception/

https://dna-explained.com/2014/10/12/tenth-annual-family-tree-dna-conference-day-2/

https://dna-explained.com/2014/10/13/tenth-annual-family-tree-dna-conference-day-3/

https://dna-explained.com/2014/10/15/tenth-annual-family-tree-dna-conference-wrapup/

Jennifer Zinck wrote great recaps of each session and the ISOGG meeting.

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-isogg-meeting/

http://www.ancestorcentral.com/decennial-conference-on-genetic-genealogy-sunday/

I thank Family Tree DNA for sponsoring all 10 conferences and continuing the tradition.  It’s really an amazing feat when you consider that 15 years ago, this industry didn’t exist at all and wouldn’t exist today if not for Max and Bennett.

Education

Two educational venues offered classes for genetic genealogists and have made their presentations available either for free or very reasonably.  One of the problems with genetic genealogy is that the field is so fast moving that last year’s session, unless it’s the very basics, is probably out of date today.  That’s the good news and the bad news.

https://dna-explained.com/2014/11/12/genetic-genealogy-ireland-2014-presentations 

https://dna-explained.com/2014/09/26/educational-videos-from-international-genetic-genealogy-conference-now-available/

In addition, three books have been released in 2014.emily book

In January, Emily Aulicino released Genetic Genealogy, The Basics and Beyond.

richard hill book

In October, Richard Hill released “Guide to DNA Testing: How to Identify Ancestors, Confirm Relationships and Measure Ethnicity through DNA Testing.”

david dowell book

Most recently, David Dowell’s new book, NextGen Genealogy: The DNA Connection was released right after Thanksgiving.

 

Ancestor Reconstruction – Raising the Dead

This seems to be the year that genetic genealogists are beginning to reconstruct their ancestors (on paper, not in the flesh) based on the DNA that the ancestors passed on to various descendants.  Those segments are “gathered up” and reassembled in a virtual ancestor.

I utilized Kitty Cooper’s tool to do just that.

https://dna-explained.com/2014/10/03/ancestor-reconstruction/

henry bolton probablyI know it doesn’t look like much yet but this is what I’ve been able to gather of Henry Bolton, my great-great-great-grandfather.

Kitty did it herself too.

http://blog.kittycooper.com/2014/08/mapping-an-ancestral-couple-a-backwards-use-of-my-segment-mapper/

http://blog.kittycooper.com/2014/09/segment-mapper-tool-improvements-another-wold-dna-map/

Ancestry.com wrote a paper about the fact that they have figured out how to do this as well in a research environment.

http://corporate.ancestry.com/press/press-releases/2014/12/ancestrydna-reconstructs-partial-genome-of-person-living-200-years-ago/

http://www.thegeneticgenealogist.com/2014/12/16/ancestrydna-recreates-portions-genome-david-speegle-two-wives/

GedMatch has created a tool called, appropriately, Lazarus that does the same thing, gathers up the DNA of your ancestor from their descendants and reassembles it into a DNA kit.

Blaine Bettinger has been working with and writing about his experiences with Lazarus.

http://www.thegeneticgenealogist.com/2014/10/20/finally-gedmatch-announces-monetization-strategy-way-raise-dead/

http://www.thegeneticgenealogist.com/2014/12/09/recreating-grandmothers-genome-part-1/

http://www.thegeneticgenealogist.com/2014/12/14/recreating-grandmothers-genome-part-2/

Tools

Speaking of tools, we have some new tools that have been introduced this year as well.

Genome Mate is a desktop tool used to organize data collected by researching DNA comparsions and aids in identifying common ancestors.  I have not used this tool, but there are others who are quite satisfied.  It does require Microsoft Silverlight be installed on your desktop.

The Autosomal DNA Segment Analyzer is available through www.dnagedcom.com and is a tool that I have used and found very helpful.  It assists you by visually grouping your matches, by chromosome, and who you match in common with.

adsa cluster 1

Charting Companion from Progeny Software, another tool I use, allows you to colorize and print or create pdf files that includes X chromosome groupings.  This greatly facilitates seeing how the X is passed through your ancestors to you and your parents.

x fan

WikiTree is a free resource for genealogists to be able to sort through relationships involving pedigree charts.  In November, they announced Relationship Finder.

Probably the best example I can show of how WikiTree has utilized DNA is using the results of King Richard III.

wiki richard

By clicking on the DNA icon, you see the following:

wiki richard 2

And then Richard’s Y, mitochondrial and X chromosome paths.

wiki richard 3

Since Richard had no descendants, to see how descendants work, click on his mother, Cecily of York’s DNA descendants and you’re shown up to 10 generations.

wiki richard 4

While this isn’t terribly useful for Cecily of York who lived and died in the 1400s, it would be incredibly useful for finding mitochondrial descendants of my ancestor born in 1802 in Virginia.  I’d love to prove she is the daughter of a specific set of parents by comparing her DNA with that of a proven daughter of those parents!  Maybe I’ll see if I can find her parents at WikiTree.

Kitty Cooper’s blog talks about additional tools.  I have used Kitty’s Chromosome mapping tools as discussed in ancestor reconstruction.

Felix Chandrakumar has created a number of fun tools as well.  Take a look.  I have not used most of these tools, but there are several I’ll be playing with shortly.

Exits and Entrances

With very little fanfare, deCODEme discontinued their consumer testing and reminded people to download their date before year end.

https://dna-explained.com/2014/09/30/decodeme-consumer-tests-discontinued/

I find this unfortunate because at one time, deCODEme seemed like a company full of promise for genetic genealogy.  They failed to take the rope and run.

On a sad note, Lucas Martin who founded DNA Tribes unexpectedly passed away in the fall.  DNA Tribes has been a long-time player in the ethnicity field of genetic genealogy.  I have often wondered if Lucas Martin was a pseudonym, as very little information about Lucas was available, even from Lucas himself.  Neither did I find an obituary.  Regardless, it’s sad to see someone with whom the community has worked for years pass away.  The website says that they expect to resume offering services in January 2015. I would be cautious about ordering until the structure of the new company is understood.

http://www.dnatribes.com/

In the last month, a new offering has become available that may be trying to piggyback on the name and feel of DNA Tribes, but I’m very hesitant to provide a link until it can be determined if this is legitimate or bogus.  If it’s legitimate, I’ll be writing about it in the future.

However, the big news exit was Ancestry’s exit from the Y and mtDNA testing arena.  We suspected this would happen when they stopped selling kits, but we NEVER expected that they would destroy the existing data bases, especially since they maintain the Sorenson data base as part of their agreement when they obtained the Sorenson data.

https://dna-explained.com/2014/10/02/ancestry-destroys-irreplaceable-dna-database/

The community is still hopeful that Ancestry may reverse that decision.

Ancestry – The Chromosome Browser War and DNA Circles

There has been an ongoing battle between Ancestry and the more seasoned or “hard-core” genetic genealogists for some time – actually for a long time.

The current and most long-standing issue is the lack of a chromosome browser, or any similar tools, that will allow genealogists to actually compare and confirm that their DNA match is genuine.  Ancestry maintains that we don’t need it, wouldn’t know how to use it, and that they have privacy concerns.

Other than their sessions and presentations, they had remained very quiet about this and not addressed it to the community as a whole, simply saying that they were building something better, a better mousetrap.

In the fall, Ancestry invited a small group of bloggers and educators to visit with them in an all-day meeting, which came to be called DNA Day.

https://dna-explained.com/2014/10/08/dna-day-with-ancestry/

In retrospect, I think that Ancestry perceived that they were going to have a huge public relations issue on their hands when they introduced their new feature called DNA Circles and in the process, people would lose approximately 80% of their current matches.  I think they were hopeful that if they could educate, or convince us, of the utility of their new phasing techniques and resulting DNA Circles feature that it would ease the pain of people’s loss in matches.

I am grateful that they reached out to the community.  Some very useful dialogue did occur between all participants.  However, to date, nothing more has happened nor have we received any additional updates after the release of Circles.

Time will tell.

https://dna-explained.com/2014/11/18/in-anticipation-of-ancestrys-better-mousetrap/

https://dna-explained.com/2014/11/19/ancestrys-better-mousetrap-dna-circles/

DNA Circles 12-29-2014

DNA Circles, while interesting and somewhat useful, is certainly NOT a replacement for a chromosome browser, nor is it a better mousetrap.

https://dna-explained.com/2014/11/30/chromosome-browser-war/

In fact, the first thing you have to do when you find a DNA Circle that you have not verified utilizing raw data and/or chromosome browser tools from either 23andMe, Family Tree DNA or Gedmatch, is to talk your matches into transferring their DNA to Family Tree DNA or download to Gedmatch, or both.

https://dna-explained.com/2014/11/27/sarah-hickerson-c1752-lost-ancestor-found-52-ancestors-48/

I might add that the great irony of finding the Hickerson DNA Circle that led me to confirm that ancestry utilizing both Family Tree DNA and GedMatch is that today, when I checked at Ancestry, the Hickerson DNA Circle is no longer listed.  So, I guess I’ve been somehow pruned from the circle.  I wonder if that is the same as being voted off of the island.  So, word to the wise…check your circles often…they change and not always in the upwards direction.

The Seamy Side – Lies, Snake Oil Salesmen and Bullys

Unfortunately a seamy side, an underbelly that’s rather ugly has developed in and around the genetic genealogy industry.  I guess this was to be expected with the rapid acceptance and increasing popularity of DNA testing, but it’s still very unfortunate.

Some of this I expected, but I didn’t expect it to be so…well…blatant.

I don’t watch late night TV, but I’m sure there are now DNA diets and DNA dating and just about anything else that could be sold with the allure of DNA attached to the title.

I googled to see if this was true, and it is, although I’m not about to click on any of those links.

google dna dating

google dna diet

Unfortunately, within the ever-growing genetic genealogy community a rather large rift has developed over the past couple of years.  Obviously everyone can’t get along, but this goes beyond that.  When someone disagrees, a group actively “stalks” the person, trying to cost them their employment, saying hate filled and untrue things and even going so far as to create a Facebook page titled “Against<personname>.”  That page has now been removed, but the fact that a group in the community found it acceptable to create something like that, and their friends joined, is remarkable, to say the least.  That was accompanied by death threats.

Bullying behavior like this does not make others feel particularly safe in expressing their opinions either and is not conducive to free and open discussion. As one of the law enforcement officers said, relative to the events, “This is not about genealogy.  I don’t know what it is about, yet, probably money, but it’s not about genealogy.”

Another phenomenon is that DNA is now a hot topic and is obviously “selling.”  Just this week, this report was published, and it is, as best we can tell, entirely untrue.

http://worldnewsdailyreport.com/usa-archaeologists-discover-remains-of-first-british-settlers-in-north-america/

There were several tip offs, like the city (Lanford) and county (Laurens County) is not in the state where it is attributed (it’s in SC not NC), and the name of the institution is incorrect (Johns Hopkins, not John Hopkins).  Additionally, if you google the name of the magazine, you’ll see that they specialize in tabloid “faux reporting.”  It also reads a lot like the King Richard genuine press release.

http://urbanlegends.about.com/od/Fake-News/tp/A-Guide-to-Fake-News-Websites.01.htm

Earlier this year, there was a bogus institutional site created as well.

On one of the DNA forums that I frequent, people often post links to articles they find that are relevant to DNA.  There was an interesting article, which has now been removed, correlating DNA results with latitude and altitude.  I thought to myself, I’ve never heard of that…how interesting.   Here’s part of what the article said:

Researchers at Aberdeen College’s Havering Centre for Genetic Research have discovered an important connection between our DNA and where our ancestors used to live.

Tiny sequence variations in the human genome sometimes called Single Nucleotide Polymorphisms (SNPs) occur with varying frequency in our DNA.  These have been studied for decades to understand the major migrations of large human populations.  Now Aberdeen College’s Dr. Miko Laerton and a team of scientists have developed pioneering research that shows that these differences in our DNA also reveal a detailed map of where our own ancestors lived going back thousands of years.

Dr. Laerton explains:  “Certain DNA sequence variations have always been important signposts in our understanding of human evolution because their ages can be estimated.  We’ve known for years that they occur most frequently in certain regions [of DNA], and that some alleles are more common to certain geographic or ethnic groups, but we have never fully understood the underlying reasons.  What our team found is that the variations in an individual’s DNA correlate with the latitudes and altitudes where their ancestors were living at the time that those genetic variations occurred.  We’re still working towards a complete understanding, but the knowledge that sequence variations are connected to latitude and altitude is a huge breakthrough by itself because those are enough to pinpoint where our ancestors lived at critical moments in history.”

The story goes on, but at the bottom, the traditional link to the publication journal is found.

The full study by Dr. Laerton and her team was published in the September issue of the Journal of Genetic Science.

I thought to myself, that’s odd, I’ve never heard of any of these people or this journal, and then I clicked to find this.

Aberdeen College bogus site

About that time, Debbie Kennett, DNA watchdog of the UK, posted this:

April Fools Day appears to have arrived early! There is no such institution as Aberdeen College founded in 1394. The University of Aberdeen in Scotland was founded in 1495 and is divided into three colleges: http://www.abdn.ac.uk/about/colleges-schools-institutes/colleges-53.php

The picture on the masthead of the “Aberdeen College” website looks very much like a photo of Aberdeen University. This fake news item seems to be the only live page on the Aberdeen College website. If you click on any other links, including the link to the so-called “Journal of Genetic Science”, you get a message that the website is experienced “unusually high traffic”. There appears to be no such journal anyway.

We also realized that Dr. Laerton, reversed, is “not real.”

I still have no idea why someone would invest the time and effort into the fake website emulating the University of Aberdeen, but I’m absolutely positive that their motives were not beneficial to any of us.

What is the take-away of all of this?  Be aware, very aware, skeptical and vigilant.  Stick with the mainstream vendors unless you realize you’re experimenting.

King Richard

King Richard III

The much anticipated and long-awaited DNA results on the remains of King Richard III became available with a very unexpected twist.  While the science team feels that they have positively identified the remains as those of Richard, the Y DNA of Richard and another group of men supposed to have been descended from a common ancestor with Richard carry DNA that does not match.

https://dna-explained.com/2014/12/09/henry-iii-king-of-england-fox-in-the-henhouse-52-ancestors-49/

https://dna-explained.com/2014/12/05/mitochondrial-dna-mutation-rates-and-common-ancestors/

Debbie Kennett wrote a great summary article.

http://cruwys.blogspot.com/2014/12/richard-iii-and-use-of-dna-as-evidence.html

More Alike than Different

One of the life lessons that genetic genealogy has held for me is that we are more closely related that we ever knew, to more people than we ever expected, and we are far more alike than different.  A recent paper recently published by 23andMe scientists documents that people’s ethnicity reflect the historic events that took place in the part of the country where their ancestors lived, such as slavery, the Trail of Tears and immigration from various worldwide locations.

23andMe European African map

From the 23andMe blog:

The study leverages samples of unprecedented size and precise estimates of ancestry to reveal the rate of ancestry mixing among American populations, and where it has occurred geographically:

  • All three groups – African Americans, European Americans and Latinos – have ancestry from Africa, Europe and the Americas.
  • Approximately 3.5 percent of European Americans have 1 percent or more African ancestry. Many of these European Americans who describe themselves as “white” may be unaware of their African ancestry since the African ancestor may be 5-10 generations in the past.
  • European Americans with African ancestry are found at much higher frequencies in southern states than in other parts of the US.

The ancestry proportions point to the different regional impacts of slavery, immigration, migration and colonization within the United States:

  • The highest levels of African ancestry among self-reported African Americans are found in southern states, especially South Carolina and Georgia.
  • One in every 20 African Americans carries Native American ancestry.
  • More than 14 percent of African Americans from Oklahoma carry at least 2 percent Native American ancestry, likely reflecting the Trail of Tears migration following the Indian Removal Act of 1830.
  • Among self-reported Latinos in the US, those from states in the southwest, especially from states bordering Mexico, have the highest levels of Native American ancestry.

http://news.sciencemag.org/biology/2014/12/genetic-study-reveals-surprising-ancestry-many-americans?utm_campaign=email-news-weekly&utm_source=eloqua

23andMe provides a very nice summary of the graphics in the article at this link:

http://blog.23andme.com/wp-content/uploads/2014/10/Bryc_ASHG2014_textboxes.pdf

The academic article can be found here:

http://www.cell.com/ajhg/home

2015

So what does 2015 hold? I don’t know, but I can’t wait to find out. Hopefully, it holds more ancestors, whether discovered through plain old paper research, cousin DNA testing or virtually raised from the dead!

What would my wish list look like?

  • More ancient genomes sequenced, including ones from North and South America.
  • Ancestor reconstruction on a large scale.
  • The haplotree becoming fleshed out and stable.
  • Big Y sequencing combined with STR panels for enhanced genealogical research.
  • Improved ethnicity reporting.
  • Mitochondrial DNA search by ancestor for descendants who have tested.
  • More tools, always more tools….
  • More time to use the tools!

Here’s wishing you an ancestor filled 2015!

 

Introducing the Autosomal DNA Segment Analyzer

We have a brand new toy in our DNA sandbox today, thanks to Don Worth, a retired IT professional.  I just love it when extremely talented people retire and we, in the genetic genealogy community, are the benefactors of their Act 2 evolution.  Our volunteers make such a cumulative difference.

Drum Roll please.

Introducing…..the Autosomal DNA Segment Analyzer, or ADSA.

The name alone doesn’t make your heart skip beats, but the product will.  This tool absolutely proves the adage that a picture is worth 1000 words.

Don described his new tool, which, by the way, is free and being hosted by Rob Warthen at www.dnagedcom.com, thus:

I created this tool in an attempt to put all the relevant information available that was needed to evaluate segment matches on a single, interactive web page. It relies on the three files for a single test kit that DNAgedcom.com collects from FamilyTreeDNA.com. These files include information about your matches, matching segment locations and sizes, and “in common with” (ICW) data. Using these files, the tool will construct a table for each chromosome which includes match and segment information as well as a visual graph of overlapping segments, juxtiposed with a customized, color-coded ICW matrix that will permit you to triangulate matching segments without having to look in multiple spreadsheets or on different screens in FamilyTreeDNA. Additional information, such as ancestral surnames, suggested relationship ranges, and matching segments and ICWs on other chromosomes is provided by hovering over match names or segments on the screen. Emails to persons you match may also be generated from the page. The web page produced by this program does not depend on any other files and may be saved as a stand-alone .html file that will function locally (or offline) in your browser. You can even email it to your matches as an attachment. You can play with a working sample output here.

Who wants to play with sample output?  I wanted to jump right in.  Word of caution…read the instructions FIRST, and pay attention, or you’ll wind up downloading your files twice.  The instructions can be found here.

I can’t tell you how many times, when I’ve been working with matches, that I’ve wondered to myself, “How many other people match us on this segment?”  For quite a while you could only download 5 people at a time, but now you can download the entire data file.  I’m a visual person.  To me, visually seeing is believing and the ADSA makes this process so much easier.  Truly, a picture is worth 1000 words.

I knew right away there were three things I wanted to do, so I’m going to run through each one of the three by way of examples to illustrate what you can do with the power of this wonderfully visual tool.  I’ve also anonymized the matches.

1. Clusters of matches.

I know I’ve told you that I’m mapping my DNA to ancestors.  When I first saw Don’s output, I knew immediately that this tool would be invaluable for grouping people from the same ancestral lines.

Barbara, the second row, is my mother and her DNA in this equation is extremely useful.  It helps me identify right away which side of my family a match comes from.  If you don’t have a parent available, aunts, uncles, cousins, all help, especially cumulatively.

Before we begin working with the results, take a minute and just sit and look at the graphic below.  These two clusters shown on this page, one near the top and the other at the bottom….they represent your ancestors.  Two very different ones in this case. This may be the only way you’ll ever “see” them, by virtue of a group of their descendants DNA clustered together.  A view through the keyhole of time provided by DNA. Isn’t it beautiful?

adsa cluster 1

All of these results in this “cluster of matches” example are my matches.  In other words, the file is mine and these are people who are matching me.  You can see that this tool provides us with start and end segments, total cMs and SNPs, and e-mails, but the true power is in the visual representation of the ICW (in common with) matrix.  The mapped segments are a nice touch too, and Don has listed these in progressive order, meaning from beginning to end of the segment (left to right.)

Look at this initial clustered group, shown enlarged below.  The first individual matches me and mother on one pink segment, but matches me on two segments, a pink and a black.  That means he’s from Mom’s side, or at least through one line, but probably somewhat distant since that one segment is his only match on any chromosome.  Because he also matches me on a segment where he doesn’t match Mom, he could also be related to me on my father’s side, or maybe we had a misread error on the black segment when comparing to Mom’s DNA. It is the adjoining segment.  In essence, there isn’t enough information to do much with this, except ask questions, so let’s move on to something more informative.

Beginning with the third person, the next grouping or cluster is entirely non-matching to mother, so this entire cluster is from my father’s side AND related to each other.

There are 6 solid matches here, and then they start to trail off to matches that aren’t so solid.

ADSA cluster 1 A

By flying over the match names with my cursor, I might be able to tell, based on their surnames, which line is being represented by this cluster of matches.  If I already have a confirmed cousin match in the group, then the rest of the group can be loosely attributed to that line, or a contributing (wife) line. Unfortunately, in this case, I can’t tell other than it looks like it might be through Halifax County, VA.  I do have an NPE there and some wives without surnames.

Let’s look on down this chromosome.  There is another very solid cluster, also on my Dad’s side.  In this second cluster, I have identified a solid cousin and I can tell you that this is a Crumley grouping.  My common ancestor with my Crumley cousin is William Crumley born about 1765 in Frederick Co., Va. and who died about 1840 in Lee Co., Va.  His wife is unknown, but we have her mitochondrial DNA.  Now this doesn’t mean that everyone in this group will all have a Crumley ancestor, they may not.  They may instead have a Mercer, a Brown, a Johnson or a Gilkey, all known wives’ surnames of Crumley men upstream of William Crumley.  But someplace, there is a common ancestor who contributed quite a bit of chromosome 1 to a significant number of descendants, and at least two of them are Crumleys.

ADSA Crumley cluster

At first, I found it really odd that my mother had almost no matches with me on chromosome 1.  Some of my mother’s ancestors came to the States later, from the Netherlands and from Germany.  Many of these groups are under-represented in testing.  However other ancestral groups have been here a long time, Acadians and Brethren Germans.  My father’s Appalachian, meaning colonial, ancestors seem to have more descendants who have tested.

However, looking now at chromosome 9, we see something different.

ADSA Acadian cluster

The second person, Doris, doesn’t match Mom anyplace, so is obviously related through my father, but look at that next grouping.

I can tell you based on hovering over the matches name that this is an Acadian grouping.  The Acadians are a very endogamous French-Canadian group, having passed the same DNA around for hundreds of years.  Therefore, a grouping is likely to share a large amount of common DNA, and this one does.

ADSA Acadian flyover

Based on this, I can then label all of these various matches as “Acadian” if nothing more.

Within a cluster, if I can identify one common ancestor, I can attribute the entire large group to the same lineage.  Be careful with smaller groups or just one or two rectangle matches.  Those aren’t nearly as strong and just because I match 2 people on the same segment doesn’t mean they match each other. However, when you see large segments of people matching each other, you have an ancestral grouping of some sort.  The challenge of course is to identify the group – but a breakthrough with one match means a likely breakthrough with the rest of them too, or at least another step in that direction.

2. Source of DNA

I have several cousins who match me on two or more distinct lines.  This tool makes it easy, in some cases, to see which line the DNA on a particular chromosome comes from.

I have both Claxton (James Lee Claxton/Clarkson born c 1775-1815 and Sarah Cook of Hancock Co., TN)  and Campbell (John Campbell b c 1772-1838 and Jane Dobkins born c 1780-1850/1860 of Claiborne Co., Tn.) ancestry.  My cousins, Joy and William do too.  In this case, you can see that Joy matches a Claxton (proven by Y DNA to be from our line) and so does William on the first green matching segment.  The second green segment is not found in the Claxton match, so it could be Claxton and the Claxton cousin didn’t receive it, or it could be Campbell, but it’s one or the other because Joy, William and I all three carry this segment.

ADSA Claxton Campbell

What this means is that the light green segments are Claxton segments, as are the fuchsia segments.  The source of the darker green segment is unknown.  It could be either Claxton or Campbell or a third common line that we don’t know about.

3.  Untangling Those Darned Moores

I swear, the Moore family is going to be the death of me yet. It’s one of my long-standing, extremely difficult brick walls.  It seems like every road of every county in Virginia and NC had one or more Moore families.  It’s a very common name.  To make thing worse, the early Moores were very prolific and they all named their children the same names, like James and William, generation after generation.

The earliest sign I can find of my particular Moore family is in Prince Edward County, Virginia when James Moore married Mary Rice (daughter of Joseph Rice and wife Rachel) in the early 1740s.  By the 1770s, the family was living in Halifax County, Virginia and their children were marrying and having children of their own of course.  They were some of the early Methodists with their son, the Reverend William Moore being a dissenting minister in Halifax County and his brothers Rice and Mackness Moore doing the same in Hawkins and Grainger County, TN.  Another son, James, went to Surry Co., NC.  We have confirmed this with a DNA descendant match.

We have the DNA of our Moore line proven on the Y side through multiple sons.  At the Moore Worldwide DNA project, we are group 19.  Now there are Moores all over the place in Halifax County.  I know, because I’ve paid for about half of them to DNA test and there are several distinct lines – far more than I expected.  Ironically, the Anderson Moore family who lived across the road from our James and then his son Rev. William, who raised the orphan Raleigh Moore, grandson of the Rev. William Moore, is NOT of the same Moore DNA line.  Based on the interaction of these two families, one would think assuredly that they were, which raises questions.  This Anderson Moore was the son of yet another James Moore, this one from Amelia County, VA., found in the large group 1 of the Moore project.  If this is all just too confusing and too close for comfort for you, well, join the crowd and what we Moore descendants have been dealing with for a decade now.

This raises the question of why there are so few matches to our Moore line.  Was our Moore line a “new Moore line,” born perhaps to a Moore daughter who gave the child her surname.  However, the child of course would pass on the father’s Y chromosome, establishing a “new” Moore genetic line.  I’m not saying that is what happened, just that it’s odd that there are so few matches to a clearly colonial Moore line out of Virginia.  With only one exception, someone genealogically stuck in Kentucky, to date, all DNA matches are all descendants of our James.  We do know that there was a William Moore, wife Margaret, living adjacent to James Moore in Prince Edward County but he and his wife sold out and moved on and are unaccounted for.

I’ve seen this same pattern with the Younger family line too, and sure enough, we did prove that these two different Y chromosome Younger families in fact do share a common ancestor.

So you can see why I get excited when I find anything at all, and I mean anything, about the Moore family line.

A Moore descendant of Raleigh, the orphan, has taken the autosomal Family Finder test, and he matched my cousin Buster, a known Moore descendant, and also another Cumberland Gap region researcher, Larry.  Larry also matches Buster.  I was very excited to see this three way match and I wrote to Larry asking if he had a Moore line.  Yes, he did, two in fact.  The Levi Moore line out of Kentucky and an Alexander Moore line out of Stokes County, NC, after they wandered down from Berks Co., PA. sometime before 1803.

Groan. Two Moores – I can’t even manage to sort one out, how will I ever sort two?

Then Larry told me that he had 4 of his cousins tested too.  Bless you Larry.

And better yet, one of Larry’s Moore lines is on his mother’s side and one on his father’s.  Even better yet.  Things are improving.

Now I’m really excited, right up until I discover that my cousin Buster matches two of Larry’s 3 cousins on his mother’s side and my Moore cousin from Halifax County, Virginia, matches the cousin on Larry’s father’s side.

How could I be THIS unlucky???

So I started out utilizing the ICW and Matrix tools at Family Tree DNA.  Because these people all matched Larry on overlapping segments on the chromosome browser, my first thought was maybe that these two Moore lines were really one and the same.  But then I pushed the ICW matches through to the Family Finder Matrix, and no, Larry’s paternal cousin does not match any of the three maternal cousins, who all match each other.  So the two Moore families are not one and the same.

Crumb.  Thank Heavens though for the Matrix which provides proof positive of whether your matches match each other.  Remember, you have two sides to each chromosome and you will have matches to both sides.  Without the Matrix tool, you have no way of knowing which of your matches are from the same side of your chromosome, meaning Mom’s side or Dad’s side.

Just about this time, as I was beginning to construct matrixes of who matches whom in the ICW compares between all of the ICW match permutations, I received a note from Don that he wanted beta testers for his new ADSA application.  I immediately knew what I was going to test!

I started with my cousin Buster’s kit.  Buster is one generation upstream from me, so one generation closer to the Moore ancestors.

On Larry’s maternal line, descended from the Levi Moore (Ky) line, he tested three cousins.  Buster had the following match results with Larry and his maternal line cousins.

  • Larry – match
  • Janice  – no match
  • Ronald  – match
  • B.J.  – match

I have redacted the e-mails and surnames below, but want to draw your attention to the individuals with the red arrows, as noted above.ADSA1 cropped v2

On the graphic below, I’m showing only the right side, so you can see the matching ICW (in common with) block patterns.  Larry is last, I’m second from last and Larry’s two cousins are the first and second red arrows.  We are all matching to my cousin, Buster.

ADSA2 cropped

You can see that all of these people match Buster.  Larry has blocks that are pink, red, fuchsia, gold, navy blue and lime green.  All of the group above, except me and two other people, one of which is my known cousin on another line, match Larry on these blocks, or at least most of these blocks.  I, however, match none of this group on none of these blocks, nor do my other known cousins who also descend through this same Moore line.  This means that this group matches Buster through Buster’s mother’s line, not through the Estes line, which means that this Moore line is not the James Moore line of Halifax County.  So the Levi Moore group of Kentucky is not descended from the James Moore group of Prince Edward and Halifax County.

Of course, I’m disappointed, but eliminating possibilities is just as important as confirming them.  I keep telling myself that anyway.

The male Moore descendant in Halifax Co., proven via Y line testing, does match with Chloa, Larry’s paternal cousin, and with Larry as well, as shown below.  Let’s see if we can discern any other people who match in a cluster, which would give us other people to contact about their Moore lines.  Keep in mind that we don’t know that the DNA in common here is from the Moore line.  It could come from another common line.  That is part of what we’d like to prove.

ADSA3

Let’s take a closer look at what this is telling us.

First, there’s a much smaller group, and this is the only chromosome where Chloa matches our Moore cousin.

So let’s look at each line.  The first person, John, doesn’t match anyone else, so he’s not in this group.

Larry and his cousin, Chloa are second and third from the bottom, and they form the match group.  You can see that they match exactly except Chloa has one brighter green segment that matches our Moore cousin in a location with no other matches.  However, the match group of navy blue, periwinkle, lime green and burgundy form a distinctive pattern.  In addition to Chloa and Larry, Virginia, and Arlina share the same segments, plus Arlina had a pink segment that Larry and Chloa don’t have.  Donald may be a cousin too, but we don’t know if Donald would also match the rest of the group.  Linda might match Donald, but doesn’t look like she matches the group, but she could.  At this point, we can drop back to Family Tree DNA and the matrix and take a look to see if these folks match each other in the way we’d expect based on the ADSA tool.

ADSA Matrix

Just like we expected, John doesn’t match anyone.  As expected, Larry, Chloa, Arlina, and Virginia all matched each other.  As it turns out, Linda does not match the rest of the group, but she does match Donald, who does match Arlina.  Therefore, our focus needs to be on contacting Arlina, Donald and Virginia and asking them about their Moore lines, or the surnames of known Moore wives, such as Rice in my James Moore line or wives surnames in Larry’s Moore line.  Just on the basis of possibility, I would also contact Linda and ask, but she is the long shot.  However, like the lottery, you can’t win if you don’t play, so just send that one extra e-mail.  You never know.  Life is made up of stories about serendipity and opportunities almost missed.

If Larry’s Moore line is the same as our Moore cousin’s line, genetically, maybe we can make headway by tracking Larry’s line.  Larry was kind enough to provide me with a website, and his Moore line begins with daughter Sarah.  Her father is Alexander Moore born in 1730 who married Elizabeth Wright.  His father was Alexander born in 1710 and who lived in Bucks Co., PA.  The younger Alexander died in Stokes Co., NC in 1803.

Moore website 1 cropped

Moore website 2

Moore website 3

Our next step is to see if this Alexander Moore line has been Y DNA tested.  Checking back at the Moore Worldwide project, this family line is not showing, but I’ve dropped a note to the administrators,  just the same.  Unfortunately, not everyone enters their most distant ancestor information which means that information is blank on the project website.

If this Alexander Moore line has been Y tested, then we already know they don’t match our group paternally.  The connection, in that case, if this genetic connection is a Moore line, could be due to a daughter birth.  If this Moore line has not been Y tested, then it means that I’ll be trying to track down a Moore descendant of one of these Alexander Moores to do the DNA test.  It would be wonderful to finally make some headway on the James Moore family.  We’ve been brick walled for such a long time.

If you descend from either of these Moore family lines, the James Moore (c 1720-c 1798) and Mary Rice line, or the Alexander Moore and Elizabeth Wright or Elizabeth Robinson line, please consider taking the Family Finder autosomal DNA test at Family Tree DNA.  If you know of a male Moore who descends from the Alexander Moore line, let’s see if he would be willing to Y DNA test.

There is a great deal of power in the combined results of descendants, as you can clearly see, thanks to Don Worth and his new Autosomal DNA Segment Analyzer tool.

Give it a test run at: http://www.DNAgedcom.com/adsa

Don wrote documentation and instructions, found here.  Please read them before downloading your files.

And Don, a big, hearty thank you for this new way to “see” our ancestors!  Thank you to Rob Warthen too for hosting this wonderful new tool!