Haplogroups: DNA SNPs Are Breadcrumbs – Follow Their Path

Recently a reader asked some great questions.

If Y-DNA is unchanged, then why isn’t the Y-DNA of every man the same today? And if it’s not the same, then how do we know that all men descend from Y-Adam? Are the scientists just guessing?

The scientists aren’t guessing, and the recent scientific innovations behind how this works is pretty amazing, so let’s unravel these questions one at a time.

The first thing we need to understand is how Y-DNA is inherited differently from autosomal DNA, and how it mutates.

First, a reminder that:

  • Y-DNA tests the Y chromosome passed from father to son in every generation, unmixed with any DNA of the mother. This article focuses on Y-DNA.
  • Mitochondrial DNA tests the mitochondria passed from mothers to all of their children, but is only passed on by the females, unmixed with the DNA of the father. This article also pertains to mitochondrial SNPS, but we will cover that more specifically later in another article.
  • Autosomal DNA is passed from both parents to their children. Each child inherits half of each parent’s autosomal DNA.

Let’s look at how this works.

Autosomal vs Y-DNA Inheritance

Click on image to enlarge

Autosomal DNA, shown here with the green (male) and pink (female) images, divides in each generation as it’s passed from the parent to their child. Each child inherits half of each parent’s autosomal DNA, meaning chromosomes 1-22. For this discussion, each descendant shown above is a male and has a Y chromosome.

This means that in the first generation, which would be the great-grandfather, about 700,000 locations of his green autosomal DNA are tested for genealogy purposes.

His female partner (pink) also has about 700,000 locations. During recombination, they each contribute about 350,000 SNPs (Single Nucleotide Polymorphisms) of autosomal DNA to their child. Their offspring then has a total of 700,000 SNPs, 350,000 green and 350,000 pink contributed by each parent.

This process is repeated for each child, whether male or female (with the exception of the X chromosome, which is beyond the scope of this article), but each child does not receive exactly the same half of their parents’ autosomal DNA. Recombination is random.

In the four generations shown above, the green autosomal DNA of generation one, the great-grandfather, has been divided and recombined three times. The original 700,000 locations of great-grandfather’s green DNA has now been whittled down to about 87,500 locations of his green DNA.

Y-DNA in the Same Generation

Looking now at the blue Y-DNA at left, the Y-DNA remains the same in each generation with the exception of one mutation approximately every two or three generations.

As you can see in the chart, in the exact same number of generations, the Y-DNA of each male, which he inherited from his father:

  • Never recombines with any DNA from the mother
  • Never divides and gets smaller in subsequent generations
  • Remains essentially unchanged in each generation

The key word here is “essentially.”

Y-DNA

The Y chromosome consists of about 59 million locations or SNPs of DNA. STR tests, Short Tandem Repeats, which are essentially insertions and deletions, test limited numbers of carefully curated markers selected for the fact that they mutate in a genealogically relevant timeframe. These markers are combined in panels of either 67 or 111 marker tests available for purchase at FamilyTreeDNA today, or historically 12, 25, 37, 67, and 111 marker panels. The STR test was the original Y-DNA test for genealogy and is still used as an introductory test or to see if a male matches a specific line, or not.

From the STR tests, in addition to matching, FamilyTreeDNA can reliably predict a relatively high-level haplogroup, or genetic clan, based on the frequency of the combinations of those marker values in specific STR locations.

SNPs are much more reliable than STRs, which tend to be comparatively unstable, mutating at an unreliable rate, and back mutating, which can be very disconcerting for genealogy. We need reliable consistency to be able to assign a male tester to a specific lineage with confidence. We can, however, find genealogically relevant matches that may be quite important, so I never disregard STR tests or testers. STR tests aren’t relevant for deeper history, nor can they reliably discern a specific lineage within a surname. SNP tests can and do.

The Big Y-700 SNP test gives us that and more, along with the earlier Big Y-500 test which scanned about 30 million locations. The Big Y-700 is a significant improvement; men can upgrade from the Big Y-500 or STR tests.

The Big Y-700 test scans about 50 million Y-DNA locations, known as the gold standard region, for all mutations. It reports 700 or more STR markers for matching, but more importantly, it scans for all SNP mutations in those 50 million locations.

All mutations are confirmed by at least five positive repeat scans and are then assigned a haplogroup name if found in two or more men.

Y-DNA Testing

If Y-DNA remained exactly the same, then the Y-DNA of men today would be entirely indistinguishable from each other – essentially all matching humankind’s first common ancestor. With no changes, Y-DNA would not be useful for genealogy. We need inherited mutations to be able to compare men and determine their level of relatedness to each other.

Fortunately, Y-DNA SNPs do mutate. Y-DNA is never divided or combined, so it stays essentially the same except for occasional mutations which are inherited by the following generations.

Using SNP markers scanned in the Big Y test, one new mutation happens on the average of every two or three generations. Of course, that means that sometimes there are no mutations for a few generations, and sometimes there are two mutations between father and son.

What this does, though, very effectively, is provide a trail of SNP mutations – breadcrumbs essentially – that we can use for matching, AND for tracking our mutations, which equate to ancestors, back in time.

Estes Male Breadcrumb Trail

I’ve tested several Estes men of known lineage, so I’m going to use this line as an example of how mutations act as breadcrumbs, allowing us to track our ancestors back in time and across the globe.

Multiple cousins in my Estes line have taken the Big Y-700 test.

My closest male cousin matches two other men on a unique mutation. That SNP has been named haplogroup R-ZS3700.

We know, based on our genealogy, that this mutation occurred in Virginia and is found in the sons of Moses Estes born in 1711.

How do we know that?

We know that because three of Moses’s descendants have tested and all three of those men have the same mutation, R-ZS3700, and none of the sons of Moses’s brothers have that mutation.

I’ve created a chart to illustrate the Estes pedigree chart, and the haplogroups assigned to those men. So, it’s a DNA pedigree chart too. This is exactly what the Big-Y DNA test does for us.

In the red-bordered block of testers, you can see the three men that all have R-ZS3700 (in red), and all are sons of Moses born in 1711. I have not typed the names of all the men in each generation because, for purposes of this illustration, names aren’t important. However, the concept and the fact that we have been able to connect them genealogically, either before or because of Y-DNA testing, is crucial.

Directly above Moses born in 1711, you can see his father Abraham born in 1647, along with Moses’ brothers at right and left; John, Richard, Sylvester, and Elisha whose descendants have taken the Big Y-700 test. Moses’s brothers’ descendants all have haplogroup R-BY490 (in blue), but NOT R-ZS3700. That tells us that the mutation responsible for R-ZS3700 happened between Abraham born in 1647, and Moses born in 1711. Otherwise, Moses’s brothers would have the mutation if his father had the mutation.

Moses’s descendants also have R-BY490, but it’s NOT the last SNP or haplogroup in their lineage. For Moses’s descendants, R-ZS3700 occurred after R-BY490.

You can see haplogroup R-BY490 boxed in blue.

We know that Moses and his father, Abraham, both have haplogroup R-BY490 because all of Abraham’s sons have this haplogroup. Additionally, we know that Abraham’s father, Silvester also had haplogroup R-BY490.

How do we know that?

Abraham’s brother, Richard’s descendant, tested and he has haplogroup R-BY490.

However, Silvester’s father, Robert born in 1555 did NOT have R-BY490, so it formed between him and his son, Silvester.

How do we know that?

Robert’s other son, Robert born in 1603 has a descendant who tested and has haplogroup R-BY482, but does NOT have R-BY490 or R-ZS3700.

All of the other Eates testers also have R-BY482, blocked in green, in addition to R-BY490, so we know that the mutation of R-BY490 developed between Robert born in 1555 and his son, Silvester born in 1600, because his other son’s descendant does not have it.

Looking at only the descent of the haplogroups, in order, we have

  • R-BY482 (green) found in Robert born in 1555 and all of his descendants.
  • R-BY490 (blue) found in Silvester born in 1600 and all of his descendants, but not his brother
  • R-ZS3700 (red) found in Moses born in 1711 and all of his descendants, but not his brothers

If we had Estes men who descend from the two additional documented generations upstream of Robert born in 1555, we might discover when R-BY482 occurred, but to date, we don’t have any additional testers from those lines.

Now that we understand the genesis of these three haplogroups in the Estes lineage, what else can we discover through our haplogroup breadcrumbs?

The Discover Reports

By entering the haplogroup in the Discover tool, either on the public page, here, or clicking on Discover on your personal page at FamilyTreeDNA if you’ve taken the Big-Y test, you will see several reports for your haplogroup.

I strongly suggest reviewing each category, because they cumulatively act as chapters to the book of your haplogroup story, but we’re going to skip directly to the breadcrumbs, which is called the Ancestral Path.

The Ancestral Path begins with your haplogroup in Line 1 then lists the first upstream or parent haplogroup in Line 2. In this case, the haplogroup I entered is R-ZS3700.

You can see the estimated age of the haplogroup, meaning when it formed, at about 1700 CE. Moses Estes who was born in 1711 is the first Estes man to carry haplogroup R-ZS3700, so that’s extremely close.

Line 2, R-BY490 occurred or was born about 1650, and we know that it actually occurred between Robert and Silvester born in 1600, so that’s close too.

Scanning down to Line 3, R-BY482 is estimated to have occurred about 1500 CE, and we know for sure it had occurred by 1555 when Robert was born.

We see the parent haplogroup of R-BY487 on Line 4, dating from about 750 CE. Of course, if more men test, it’s possible that more haplogroups will emerge between BY482 and BY487, forming a new branch. Given the time involved, those men wouldn’t be expected to carry the Estes surname, as surnames hadn’t yet been adopted in that timeframe.

Moving down to Line 9, we see R-ZP18 from 2250 BCE, or about 4250 years ago. Looking at the right column, there’s one ancient sample with that haplogroup. The location of ancient samples anchors haplogroups definitively in a particular location at a specific time.

Haplogroup by haplogroup, step by step, we can follow the breadcrumbs back in time to Y-Adam, the first homo sapiens male known to have descendants today, meaning he’s the MRCA, or most recent common ancestor for all men.

Neanderthals and Denisovans follow, but their Y-DNA is only available through ancient samples. They have no known direct male survivors, but someday, maybe someone will test and their Y-DNA will be found to descend from Neanderthals or Denisovans.

Now that we know when those haplogroups occurred, how did our ancestors get from Africa 232,000 years ago to Kent, England, in the 1400s? What path did they take?

The new Globetrekker tool answers that question.

The Breadcrumb Trail

In Globetrekker, each haplogroup’s location is placed by a combination of testers’ results, their identified earliest known ancestor (EKA) country and location, combined with ancient samples, climatic factors like glaciers and sea levels, and geographic features. You can read about Globetrekker here and here.

To view the Globetrekker tool, you must sign it to an account that has taken the Big Y test. It’s a tool exclusively provided for Big-Y testers.

You can click at the bottom of your Globetrekker map to play the animated video.

Beginning in Africa, our ancestors began their journey with Y-Adam, then migrated through the Near East, South Asia, East Asia, then west through central Asia into Europe. The Estes ancestors crossed the English Channel and migrated around what is now England before settling in Deal, on the east coast.

Clicking on any haplogroup provides a description of that haplogroup and how it was placed in that location.

Enabling the option for ancient DNA shows those locations as well, near the haplogroups they represent when the animation is playing.

Clicking on the shovel icon explains about that particular ancient DNA sample, what is known, and how it relates to the haplogroup it’s connected to by a dotted line on the map.

Pretty cool, huh!!

End to End

As you can see from this example, Big Y results are an end-to-end tool.

We can use the Big Y-700 haplogroups very successfully for recent genealogy – assigning testers to specific lines in a genealogy timeframe. Some haplogroups are so specific that, without additional information, we can place a man in his exact generation, or within a generation or two.

Not shown in my Estes pedigree chart is an adoptee with a different surname, of course. We know that he descends from Moses’s line because he carries haplogroup R-ZS3700, but we are still working on the more recent generations using autosomal DNA to connect him accurately.  If more of Moses’s descendants tested, we could probably place him very specifically. Without the Big Y-700 test, he wouldn’t know his biological surname or that he descends from Moses. That’s a HUGE breakthrough for him.

There’s more about the Estes line to learn, however.

If our Estes cousins tested their brothers, uncles or other Estes males in their line, they would likely receive a more refined haplogroup that’s relevant only to that line.

Using Big-Y test results, we can place men within a couple of generations and identify a common ancestor, even when all men within a haplogroup don’t know their genealogical lineage. Using those same test results, we can follow the breadcrumbs all 50 steps back in time more than 230,000 years to Y-Adam.

End to end, the Big-Y test coupled with breadcrumbs in Discover, Globetrekker, and other amazing tools is absolutely the most informative and powerful test available to male testers for their paternal line genealogy.

These amazing innovations tracking more than 50,000 haplogroups across the globe answer the original questions about how we know.

The more people who take or upgrade to the Big Y-700 test, the more haplogroup branches will be added, and the more refined the breadcrumbs, ages, and maps will become. In other words, there’s still more to learn.

Test if you haven’t, and check back often for new matches and breadcrumbs, aka updates.

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DNA: In Search of…Signs of Endogamy

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

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

After introductions, we will be covering the following topics:

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

What Is Endogamy and Why Does It Matter?

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

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

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

This Article

This article serves two purposes.

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

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

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

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

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

I’ve previously written about endogamy in the articles:

Let’s start with definitions.

Pedigree Collapse and Endogamy

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

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

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

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

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

Pedigree Collapse and Endogamy is NOT the Same

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

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

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

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

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

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

Endogamy Doesn’t Necessarily Indicate Recent Pedigree Collapse

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

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

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

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

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

Endogamous Groups

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

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

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

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

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

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

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

Endogamy is a process that occurs over time.

Endogamy and Unknown Relatives

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

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

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

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

The Challenge

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

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

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

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

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

One Size Does NOT Fit All

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

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

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

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

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

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

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

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

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

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

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

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

Ethnicity and Populations

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

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

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

This individual at FamilyTreeDNA is 100% Ashkenazi Jewish.

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

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

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

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

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

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

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

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

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

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

Ethnicity Sides

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

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

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

Here’s an example at 23andMe.

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

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

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

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

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

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

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

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

Let’s look at another example.

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

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

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

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

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

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

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

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

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

Ancestry’s DNA Communities

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

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

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

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

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

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

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

MyHeritage’s Genetic Groups

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

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

You can also sort your matches by Genetic Groups.

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

I wrote about Genetic Groups, here.

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

Matches

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

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

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

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

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

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

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

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

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

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

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

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

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

In fact, in order:

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

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

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

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

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

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

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

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

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

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

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

Matching Location at MyHeritage

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

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

AutoClusters

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

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

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

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

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

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

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

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

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

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

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

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

Endogamous Relationships

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

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

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

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

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

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

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

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

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

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

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

However, in these dozen examples:

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

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

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

Furthermore, it can get more complex.

Half Endogamous

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

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

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

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

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

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

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

However, that’s not universally what we see.

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

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

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

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

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

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

Ancestry and Timber

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

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

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

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

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

Endogamous Segments

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

How and why does this happen?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

More, Smaller Segments

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

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

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

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

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

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

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

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

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

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

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

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

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

Endogamy, Segments, and Distant Relationships

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

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

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

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

“Are Your Parents Related?” Tool

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

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

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

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

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

Click on “Are your parents related?”

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

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

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

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

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

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

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

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

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

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

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

Let’s look for more clues.

Surnames

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

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

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

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

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

You can evaluate in either or both of two ways:

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

Here are some examples from our testers.

Jewish – Closest surname matches.

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

Acadian – Closest surname matches.

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

Native American – Closest surname matches.

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

You may recognize these categories of surnames immediately.

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

The most unusual surnames are likely your best bets.

Projects

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

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

Scroll down until you see this image.

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

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

These results are for Muise, an Acadian surname.

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

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

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

Locations

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

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

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

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

Y DNA, Mitochondrial DNA, and Endogamy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Discover for Y DNA Only

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

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

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

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

You’ll be treated to:

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

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

Endogamy Tools Summary Tables

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

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

Summary of Endogamy Tools by Vendor

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

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

Summary of Endogamous Populations Identified by Each Tool

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

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

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

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

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

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

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

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

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

Acknowledgments

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

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

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Genetic Genealogy at 20 Years: Where Have We Been, Where Are We Going and What’s Important?

Not only have we put 2020 in the rear-view mirror, thankfully, we’re at the 20-year, two-decade milestone. The point at which genetics was first added to the toolbox of genealogists.

It seems both like yesterday and forever ago. And yes, I’ve been here the whole time,  as a spectator, researcher, and active participant.

Let’s put this in perspective. On New Year’s Eve, right at midnight, in 2005, I was able to score kit number 50,000 at Family Tree DNA. I remember this because it seemed like such a bizarre thing to be doing at midnight on New Year’s Eve. But hey, we genealogists are what we are.

I knew that momentous kit number which seemed just HUGE at the time was on the threshold of being sold, because I had inadvertently purchased kit 49,997 a few minutes earlier.

Somehow kit 50,000 seemed like such a huge milestone, a landmark – so I quickly bought kits, 49,998, 49,999, and then…would I get it…YES…kit 50,000. Score!

That meant that in the 5 years FamilyTreeDNA had been in business, they had sold on an average of 10,000 kits per year, or 27 kits a day. Today, that’s a rounding error. Then it was momentous!

In reality, the sales were ramping up quickly, because very few kits were sold in 2000, and roughly 20,000 kits had been sold in 2005 alone. I know this because I purchased kit 28,429 during the holiday sale a year earlier.

Of course, I had no idea who I’d test with that momentous New Year’s Eve Y DNA kit, but I assuredly would find someone. A few months later, I embarked on a road trip to visit an elderly family member with that kit in tow. Thank goodness I did, and they agreed and swabbed on the spot, because they are gone today and with them, the story of the Y line and autosomal DNA of their branch.

In the past two decades, almost an entire generation has slipped away, and with them, an entire genealogical library held in their DNA.

Today, more than 40 million people have tested with the four major DNA testing companies, although we don’t know exactly how many.

Lots of people have had more time to focus on genealogy in 2020, so let’s take a look at what’s important? What’s going on and what matters beyond this month or year?

How has this industry changed in the last two decades, and where it is going?

Reflection

This seems like a good point to reflect a bit.

Professor Dan Bradley reflecting on early genetic research techniques in his lab at the Smurfit Institute of Genetics at Trinity College in Dublin. Photo by Roberta Estes

In the beginning – twenty years ago, there were two companies who stuck their toes in the consumer DNA testing water – Oxford Ancestors and Family Tree DNA. About the same time, Sorenson Genomics and GeneTree were also entering that space, although Sorenson was a nonprofit. Today, of those, only FamilyTreeDNA remains, having adapted with the changing times – adding more products, testing, and sophistication.

Bryan Sykes who founded Oxford Ancestors announced in 2018 that he was retiring to live abroad and subsequently passed away in 2020. The website still exists, but the company has announced that they have ceased sales and the database will remain open until Sept 30, 2021.

James Sorenson died in 2008 and the assets of Sorenson Molecular Genealogy Foundation, including the Sorenson database, were sold to Ancestry in 2012. Eventually, Ancestry removed the public database in 2015.

Ancestry dabbled in Y and mtDNA for a while, too, destroying that database in 2014.

Other companies, too many to remember or mention, have come and gone as well. Some of the various company names have been recycled or purchased, but aren’t the same companies today.

In the DNA space, it was keep up, change, die or be sold. Of course, there was the small matter of being able to sell enough DNA kits to make enough money to stay in business at all. DNA processing equipment and a lab are expensive. Not just the equipment, but also the expertise.

The Next Wave

As time moved forward, new players entered the landscape, comprising the “Big 4” testing companies that constitute the ponds where genealogists fish today.

23andMe was the first to introduce autosomal DNA testing and matching. Their goal and focus was always medical genetics, but they recognized the potential in genealogists before anyone else, and we flocked to purchase tests.

Ancestry settled on autosomal only and relies on the size of their database, a large body of genealogy subscribers, and a widespread “feel-good” marketing campaign to sell DNA kits as the gateway to “discover who you are.”

FamilyTreeDNA did and still does offer all 3 kinds of tests. Over the years, they have enhanced both the Y DNA and mitochondrial product offerings significantly and are still known as “the science company.” They are the only company to offer the full range of Y DNA tests, including their flagship Big Y-700, full sequence mitochondrial testing along with matching for both products. Their autosomal product is called Family Finder.

MyHeritage entered the DNA testing space a few years after the others as the dark horse that few expected to be successful – but they fooled everyone. They have acquired companies and partnered along the way which allowed them to add customers (Promethease) and tools (such as AutoCluster by Genetic Affairs), boosting their number of users. Of course, MyHeritage also offers users a records research subscription service that you can try for free.

In summary:

One of the wonderful things that happened was that some vendors began to accept compatible raw DNA autosomal data transfer files from other vendors. Today, FamilyTreeDNA, MyHeritage, and GEDmatch DO accept transfer files, while Ancestry and 23andMe do not.

The transfers and matching are free, but there are either minimal unlock or subscription plans for advanced features.

There are other testing companies, some with niche markets and others not so reputable. For this article, I’m focusing on the primary DNA testing companies that are useful for genealogy and mainstream companion third-party tools that complement and enhance those services.

The Single Biggest Change

As I look back, the single biggest change is that genetic genealogy evolved from the pariah of genealogy where DNA discussion was banned from the (now defunct) Rootsweb lists and summarily deleted for the first few years after introduction. I know, that’s hard to believe today.

Why, you ask?

Reasons varied from “just because” to “DNA is cheating” and then morphed into “because DNA might do terrible things like, maybe, suggest that a person really wasn’t related to an ancestor in a lineage society.”

Bottom line – fear and misunderstanding. Change is exceedingly difficult for humans, and DNA definitely moved the genealogy cheese.

From that awkward beginning, genetic genealogy organically became a “thing,” a specific application of genealogy. There was paper-trail traditional genealogy and then the genetic aspect. Today, for almost everyone, genealogy is “just another tool” in the genealogist’s toolbox, although it does require focused learning, just like any other tool.

DNA isn’t separate anymore, but is now an integral part of the genealogical whole. Having said that, DNA can’t solve all problems or answer all questions, but neither can traditional paper-trail genealogy. Together, each makes the other stronger and solves mysteries that neither can resolve alone.

Synergy.

I fully believe that we have still only scratched the surface of what’s possible.

Inheritance

As we talk about the various types of DNA testing and tools, here’s a quick graphic to remind you of how the different types of DNA are inherited.

  • Y DNA is inherited paternally for males only and informs us of the direct patrilineal (surname) line.
  • Mitochondrial DNA is inherited by everyone from their mothers and informs us of the mother’s matrilineal (mother’s mother’s mother’s) line.
  • Autosomal DNA can be inherited from potentially any ancestor in random but somewhat predictable amounts through both parents. The further back in time, the less identifiable DNA you’ll inherit from any specific ancestor. I wrote about that, here.

What’s Hot and What’s Not

Where should we be focused today and where is this industry going? What tools and articles popped up in 2020 to help further our genealogy addiction? I already published the most popular articles of 2020, here.

This industry started two decades ago with testing a few Y DNA and mitochondrial DNA markers, and we were utterly thrilled at the time. Both tests have advanced significantly and the prices have dropped like a stone. My first mitochondrial DNA test that tested only 400 locations cost more than $800 – back then.

Y DNA and mitochondrial DNA are still critically important to genetic genealogy. Both play unique roles and provide information that cannot be obtained through autosomal DNA testing. Today, relative to Y DNA and mitochondrial DNA, the biggest challenge, ironically, is educating newer genealogists about their potential who have never heard about anything other than autosomal, often ethnicity, testing.

We have to educate in order to overcome the cacophony of “don’t bother because you don’t get as many matches.”

That’s like saying “don’t use the right size wrench because the last one didn’t fit and it’s a bother to reach into the toolbox.” Not to mention that if everyone tested, there would be a lot more matches, but I digress.

If you don’t use the right tool, and all of the tools at your disposal, you’re not going to get the best result possible.

The genealogical proof standard, the gold standard for genealogy research, calls for “a reasonably exhaustive search,” and if you haven’t at least considered if or how Y
DNA
and mitochondrial DNA along with autosomal testing can or might help, then your search is not yet exhaustive.

I attempt to obtain the Y and mitochondrial DNA of every ancestral line. In the article, Search Techniques for Y and Mitochondrial DNA Test Candidates, I described several methodologies to find appropriate testing candidates.

Y DNA – 20 Years and Still Critically Important

Y DNA tracks the Y chromosome for males via the patrilineal (surname) line, providing matching and historical migration information.

We started 20 years ago testing 10 STR markers. Today, we begin at 37 markers, can upgrade to 67 or 111, but the preferred test is the Big Y which provides results for 700+ STR markers plus results from the entire gold standard region of the Y chromosome in order to provide the most refined results. This allows genealogists to use STR markers and SNP results together for various aspects of genealogy.

I created a Y DNA resource page, here, in order to provide a repository for Y DNA information and updates in one place. I would encourage anyone who can to order or upgrade to the Big Y-700 test which provides critical lineage information in addition to and beyond traditional STR testing. Additionally, the Big Y-700 test helps build the Y DNA haplotree which is growing by leaps and bounds.

More new SNPs are found and named EVERY SINGLE DAY today at FamilyTreeDNA than were named in the first several years combined. The 2006 SNP tree listed a grand total of 459 SNPs that defined the Y DNA tree at that time, according to the ISOGG Y DNA SNP tree. Goran Rundfeldt, head of R&D at FamilyTreeDNA posted this today:

2020 was an awful year in so many ways, but it was an unprecedented year for human paternal phylogenetic tree reconstruction. The FTDNA Haplotree or Great Tree of Mankind now includes:

37,534 branches with 12,696 added since 2019 – 51% growth!
defined by
349,097 SNPs with 131,820 added since 2019 – 61% growth!

In just one year, 207,536 SNPs were discovered and assigned FT SNP names. These SNPs will help define new branches and refine existing ones in the future.

The tree is constructed based on high coverage chromosome Y sequences from:
– More than 52,500 Big Y results
– Almost 4,000 NGS results from present-day anonymous men that participated in academic studies

Plus an additional 3,000 ancient DNA results from archaeological remains, of mixed quality and Y chromosome coverage at FamilyTreeDNA.

Wow, just wow.

These three new articles in 2020 will get you started on your Y DNA journey!

Mitochondrial DNA – Matrilineal Line of Humankind is Being Rewritten

The original Oxford Ancestor’s mitochondrial DNA test tested 400 locations. The original Family Tree DNA test tested around 1000 locations. Today, the full sequence mitochondrial DNA test is standard, testing the entire 16,569 locations of the mitochondria.

Mitochondrial DNA tracks your mother’s direct maternal, or matrilineal line. I’ve created a mitochondrial DNA resource page, here that includes easy step-by-step instructions for after you receive your results.

New articles in 2020 included the introduction of The Million Mito Project. 2021 should see the first results – including a paper currently in the works.

The Million Mito Project is rewriting the haplotree of womankind. The current haplotree has expanded substantially since the first handful of haplogroups thanks to thousands upon thousands of testers, but there is so much more information that can be extracted today.

Y and Mitochondrial Resources

If you don’t know of someone in your family to test for Y DNA or mitochondrial DNA for a specific ancestral line, you can always turn to the Y DNA projects at Family Tree DNA by searching here.

The search provides you with a list of projects available for a specific surname along with how many customers with that surname have tested. Looking at the individual Y DNA projects will show the earliest known ancestor of the surname line.

Another resource, WikiTree lists people who have tested for the Y DNA, mitochondrial DNA and autosomal DNA lines of specific ancestors.

Click on images to enlarge

On the left side, my maternal great-grandmother’s profile card, and on the right, my paternal great-great-grandfather. You can see that someone has tested for the mitochondrial DNA of Nora (OK, so it’s me) and the Y DNA of John Estes (definitely not me.)

MitoYDNA, a nonprofit volunteer organization created a comparison tool to replace Ysearch and Mitosearch when they bit the dust thanks to GDPR.

MitoYDNA accepts uploads from different sources and allows uploaders to not only match to each other, but to view the STR values for Y DNA and the mutation locations for the HVR1 and HVR2 regions of mitochondrial DNA. Mags Gaulden, one of the founders, explains in her article, What sets mitoYDNA apart from other DNA Databases?.

If you’ve tested at nonstandard companies, not realizing that they didn’t provide matching, or if you’ve tested at a company like Sorenson, Ancestry, and now Oxford Ancestors that is going out of business, uploading your results to mitoYDNA is a way to preserve your investment. PS – I still recommend testing at FamilyTreeDNA in order to receive detailed results and compare in their large database.

CentiMorgans – The Word of Two Decades

The world of autosomal DNA turns on the centimorgan (cM) measure. What is a centimorgan, exactly? I wrote about that unit of measure in the article Concepts – CentiMorgans, SNPs and Pickin’ Crab.

Fortunately, new tools and techniques make using cMs much easier. The Shared cM Project was updated this year, and the results incorporated into a wonderfully easy tool used to determine potential relationships at DNAPainter based on the number of shared centiMorgans.

Match quality and potential relationships are determined by the number of shared cMs, and the chromosome browser is the best tool to use for those comparisons.

Chromosome Browser – Genetics Tool to View Chromosome Matches

Chromosome browsers allow testers to view their matching cMs of DNA with other testers positioned on their own chromosomes.

My two cousins’ DNA where they match me on chromosomes 1-4, is shown above in blue and red at Family Tree DNA. It’s important to know where you match cousins, because if you match multiple cousins on the same segment, from the same side of your family (maternal or paternal), that’s suggestive of a common ancestor, with a few caveats.

Some people feel that a chromosome browser is an advanced tool, but I think it’s simply standard fare – kind of like driving a car. You need to learn how to drive initially, but after that, you don’t even think about it – you just get in and go. Here’s help learning how to drive that chromosome browser.

Triangulation – Science Plus Group DNA Matching Confirms Genealogy

The next logical step after learning to use a chromosome browser is triangulation. If fact, you’re seeing triangulation above, but don’t even realize it.

The purpose of genetic genealogy is to gather evidence to “prove” ancestral connections to either people or specific ancestors. In autosomal DNA, triangulation occurs when:

  • You match at least two other people (not close relatives)
  • On the same reasonably sized segment of DNA (generally 7 cM or greater)
  • And you can assign that segment to a common ancestor

The same two cousins are shown above, with triangulated segments bracketed at MyHeritage. I’ve identified the common ancestor with those cousins that those matching DNA segments descend from.

MyHeritage’s triangulation tool confirms by bracketing that these cousins also match each other on the same segment, which is the definition of triangulation.

I’ve written a lot about triangulation recently.

If you’d prefer a video, I recorded a “Top Tips” Facebook LIVE with MyHeritage.

Why is Ancestry missing from this list of triangulation articles? Ancestry does not offer a chromosome browser or segment information. Therefore, you can’t triangulate at Ancestry. You can, however, transfer your Ancestry DNA raw data file to either FamilyTreeDNA, MyHeritage, or GEDmatch, all three of which offer triangulation.

Step by step download/upload transfer instructions are found in this article:

Clustering Matches and Correlating Trees

Based on what we’ve seen over the past few years, we can no longer depend on the major vendors to provide all of the tools that genealogists want and need.

Of course, I would encourage you to stay with mainstream products being used by a significant number of community power users. As with anything, there is always someone out there that’s less than honorable.

2020 saw a lot of innovation and new tools introduced. Maybe that’s one good thing resulting from people being cooped up at home.

Third-party tools are making a huge difference in the world of genetic genealogy. My favorites are Genetic Affairs, their AutoCluster tool shown above, DNAPainter and DNAGedcom.

These articles should get you started with clustering.

If you like video resources, here’s a MyHeritage Facebook LIVE that I recorded about how to use AutoClusters:

I created a compiled resource article for your convenience, here:

I have not tried a newer tool, YourDNAFamily, that focuses only on 23andMe results although the creator has been a member of the genetic genealogy community for a long time.

Painting DNA Makes Chromosome Browsers and Triangulation Easy

DNAPainter takes the next step, providing a repository for all of your painted segments. In other words, DNAPainter is both a solution and a methodology for mass triangulation across all of your chromosomes.

Here’s a small group of people who match me on the same maternal segment of chromosome 1, including those two cousins in the chromosome browser and triangulation sections, above. We know that this segment descends from Philip Jacob Miller and his wife because we’ve been able to identify that couple as the most distant ancestor intersection in all of our trees.

It’s very helpful that DNAPainter has added the functionality of painting all of the maternal and paternal bucketed matches from Family Tree DNA.

All you need to do is to link your known matches to your tree in the proper place at FamilyTreeDNA, then they do the rest by using those DNA matches to indicate which of the rest of your matches are maternal and paternal. Instructions, here. You can then export the file and use it at DNAPainter to paint all of those matches on the correct maternal or paternal chromosomes.

Here’s an article providing all of the DNAPainter Instructions and Resources.

DNA Matches Plus Trees Enhance Genealogy

Of course, utilizing DNA matching plus finding common ancestors in trees is one of the primary purposes of genetic genealogy – right?

Vendors have linked the steps of matching DNA with matching ancestors in trees.

Genetic Affairs take this a step further. If you don’t have an ancestor in your tree, but your matches have common ancestors with each other, Genetic Affairs assembles those trees to provide you with those hints. Of course, that common ancestor might not be relevant to your genealogy, but it just might be too!

click to enlarge

This tree does not include me, but two of my matches descend from a common ancestor and that common ancestor between them might be a clue as to why I match both of them.

Ethnicity Continues to be Popular – But Is No Shortcut to Genealogy

Ethnicity is always popular. People want to “do their DNA” and find out where they come from. I understand. I really do. Who doesn’t just want an answer?

Of course, it’s not that simple, but that doesn’t mean it’s not disappointing to people who test for that purpose with high expectations. Hopefully, ethnicity will pique their curiosity and encourage engagement.

All four major vendors rolled out updated ethnicity results or related tools in 2020.

The future for ethnicity, I believe, will be held in integrated tools that allow us to use ethnicity results for genealogy, including being able to paint our ethnicity on our chromosomes as well as perform segment matching by ethnicity.

For example, if I carry an African segment on chromosome 1 from my father, and I match one person from my mother’s side and one from my father’s side on that same segment – one or the other of those people should also have that segment identified as African. That information would inform me as to which match is paternal and which is maternal

Not only that, this feature would help immensely tracking ancestors back in time and identifying their origins.

Will we ever get there? I don’t know. I’m not sure ethnicity is or can be accurate enough. We’ll see.

Transition to Digital and Online

Sometimes the future drags us kicking and screaming from the present.

With the imposed isolation of 2020, conferences quickly moved to an online presence. The genealogy community has all pulled together to make this work. The joke is that 2020’s most used phrase is “can you hear me?” I can vouch for that.

Of course while the year 2020 is over, the problem isn’t and is extending at least through the first half of 2021 and possibly longer. Conferences are planned months, up to a year, in advance and they can’t turn on a dime, so don’t even begin to expect in-person conferences until either late in 2021 or more likely, 2022 if all goes well this year.

I expect the future will eventually return to in-person conferences, but not entirely.

Finding ways to be more inclusive allows people who don’t want to or can’t travel or join in-person to participate.

I’ve recorded several sessions this year, mostly for 2021. Trust me, these could be a comedy, mostly of errors😊

I participated in four MyHeritage Facebook LIVE sessions in 2020 along with some other amazing speakers. This is what “live” events look like today!

Screenshot courtesy MyHeritage

A few days ago, I asked MyHeritage for a list of their LIVE sessions in 2020 and was shocked to learn that there were more than 90 in English, all free, and you can watch them anytime. Here’s the MyHeritage list.

By the way, every single one of the speakers is a volunteer, so say a big thank you to the speakers who make this possible, and to MyHeritage for the resources to make this free for everyone. If you’ve ever tried to coordinate anything like this, it’s anything but easy.

Additonally, I’ve created two Webinars this year for Legacy Family Tree Webinars.

Geoff Rasmussen put together the list of their top webinars for 2020, and I was pleased to see that I made the top 10! I’m sure there are MANY MORE you’d be interested in watching. Personally, I’m going to watch #6 yet today! Also, #9 and #22. You can always watch new webinars for free for a few days, and you can subscribe to watch all webinars, here.

The 2021 list of webinar speakers has been announced here, and while I’m not allowed to talk about something really fun that’s upcoming, let’s just say you definitely have something to look forward to in the springtime!

Also, don’t forget to register for RootsTech Connect which is entirely online and completely free, February 25-27, here.

Thank you to Penny Walters for creating this lovely graphic.

There are literally hundreds of speakers providing sessions in many languages for viewers around the world. I’ve heard the stats, but we can’t share them yet. Let me just say that you will be SHOCKED at the magnitude and reach of this conference. I’m talking dumbstruck!

During one of our zoom calls, one of the organizers says it feels like we’re constructing the plane as we’re flying, and I can confirm his observation – but we are getting it done – together! All hands on deck.

I’ll be presenting an advanced session about triangulation as well as a mini-session in the FamilySearch DNA Resource Center about finding your mother’s ancestors. I’ll share more information as it’s released and I can.

Companies and Owners Come & Go

You probably didn’t even notice some of these 2020 changes. Aside from the death of Bryan Sykes (RIP Bryan,) the big news and the even bigger unknown is the acquisition of Ancestry by Blackstone. Recently the CEO, Margo Georgiadis announced that she was stepping down. The Ancestry Board of Directors has announced an external search for a new CEO. All I can say is that very high on the priority list should be someone who IS a genealogist and who understands how DNA applies to genealogy.

Other changes included:

In the future, as genealogy and DNA testing becomes ever more popular and even more of a commodity, company sales and acquisitions will become more commonplace.

Some Companies Reduced Services and Cut Staff

I understand this too, but it’s painful. The layoffs occurred before Covid, so they didn’t result from Covid-related sales reductions. Let’s hope we see renewed investment after the Covid mess is over.

In a move that may or may not be related to an attempt to cut costs, Ancestry removed 6 and 7 cM matches from their users, freeing up processing resources, hardware, and storage requirements and thereby reducing costs.

I’m not going to beat this dead horse, because Ancestry is clearly not going to move on this issue, nor on that of the much-requested chromosome browser.

Later in the year, 23andMe also removed matches and other features, although, to their credit, they have restored at least part of this functionality and have provided ethnicity updates to V3 and V4 kits which wasn’t initially planned.

It’s also worth noting that early in 2020, 23andMe laid off 100 people as sales declined. Since that time, 23andMe has increasingly pushed consumers to pay to retest on their V5 chip.

About the same time, Ancestry also cut their workforce by about 6%, or about 100 people, also citing a slowdown in the consumer testing market. Ancestry also added a health product.

I’m not sure if we’ve reached market saturation or are simply seeing a leveling off. I wrote about that in DNA Testing Sales Decline: Reason and Reasons.

Of course, the pandemic economy where many people are either unemployed or insecure about their future isn’t helping.

The various companies need some product diversity to survive downturns. 23andMe is focused on medical research with partners who pay 23andMe for the DNA data of customers who opt-in, as does Ancestry.

Both Ancestry and MyHeritage provide subscription services for genealogy records.

FamilyTreeDNA is part of a larger company, GenebyGene whose genetics labs do processing for other companies and medical facilities.

A huge thank you to both MyHeritage and FamilyTreeDNA for NOT reducing services to customers in 2020.

Scientific Research Still Critical & Pushes Frontiers

Now that DNA testing has become a commodity, it’s easy to lose track of the fact that DNA testing is still a scientific endeavor that requires research to continue to move forward.

I’m still passionate about research after 20 years – maybe even more so now because there’s so much promise.

Research bleeds over into the consumer marketplace where products are improved and new features created allowing us to better track and understand our ancestors through their DNA that we and our family members inherit.

Here are a few of the research articles I published in 2020. You might notice a theme here – ancient DNA. What we can learn now due to new processing techniques is absolutely amazing. Labs can share files and information, providing the ability to “reprocess” the data, not the DNA itself, as more information and expertise becomes available.

Of course, in addition to this research, the Million Mito Project team is hard at work rewriting the tree of womankind.

If you’d like to participate, all you need to do is to either purchase a full sequence mitochondrial DNA kit at FamilyTreeDNA, or upgrade to the full sequence if you tested at a lower level previously.

Predictions

Predictions are risky business, but let me give it a shot.

Looking back a year, Covid wasn’t on the radar.

Looking back 5 years, neither Genetic Affairs nor DNAPainter were yet on the scene. DNAAdoption had just been formed in 2014 and DNAGedcom which was born out of DNAAdoption didn’t yet exist.

In other words, the most popular tools today didn’t exist yet.

GEDmatch, founded in 2010 by genealogists for genealogists was 5 years old, but was sold in December 2019 to Verogen.

We were begging Ancestry for a chromosome browser, and while we’ve pretty much given up beating them, because the horse is dead and they can sell DNA kits through ads focused elsewhere, that doesn’t mean genealogists still don’t need/want chromosome and segment based tools. Why, you’d think that Ancestry really doesn’t want us to break through those brick walls. That would be very bizarre, because every brick wall that falls reveals two more ancestors that need to be researched and spurs a frantic flurry of midnight searching. If you’re laughing right now, you know exactly what I mean!

Of course, if Ancestry provided a chromosome browser, it would cost development money for no additional revenue and their customer service reps would have to be able to support it. So from Ancestry’s perspective, there’s no good reason to provide us with that tool when they can sell kits without it. (Sigh.)

I’m not surprised by the management shift at Ancestry, and I wouldn’t be surprised to see several big players go public in the next decade, if not the next five years.

As companies increase in value, the number of private individuals who could afford to purchase the company decreases quickly, leaving private corporations as the only potential buyers, or becoming publicly held. Sometimes, that’s a good thing because investment dollars are infused into new product development.

What we desperately need, and I predict will happen one way or another is a marriage of individual tools and functions that exist separately today, with a dash of innovation. We need tools that will move beyond confirming existing ancestors – and will be able to identify ancestors through our DNA – out beyond each and every brick wall.

If a tester’s DNA matches to multiple people in a group descended from a particular previously unknown couple, and the timing and geography fits as well, that provides genealogical researchers with the hint they need to begin excavating the traditional records, looking for a connection.

In fact, this is exactly what happened with mitochondrial DNA – twice now. A match and a great deal of digging by one extremely persistent cousin resulting in identifying potential parents for a brick-wall ancestor. Autosomal DNA then confirmed that my DNA matched with 59 other individuals who descend from that couple through multiple children.

BUT, we couldn’t confirm those ancestors using autosomal DNA UNTIL WE HAD THE NAMES of the couple. DNA has the potential to reveal those names!

I wrote about that in Mitochondrial DNA Bulldozes Brick Wall and will be discussing it further in my RootsTech presentation.

The Challenge

We have most of the individual technology pieces today to get this done. Of course, the combined technological solution would require significant computing resources and processing power – just at the same time that vendors are desperately trying to pare costs to a minimum.

Some vendors simply aren’t interested, as I’ve already noted.

However, the winner, other than us genealogists, of course, will be the vendor who can either devise solutions or partner with others to create the right mix of tools that will combine matching, triangulation, and trees of your matches to each other, even if you don’t’ share a common ancestor.

We need to follow the DNA past the current end of the branch of our tree.

Each triangulated segment has an individual history that will lead not just to known ancestors, but to their unknown ancestors as well. We have reached critical mass in terms of how many people have tested – and more success would encourage more and more people to test.

There is a genetic path over every single brick wall in our genealogy.

Yes, I know that’s a bold statement. It’s not future Jetson’s flying-cars stuff. It’s doable – but it’s a matter of commitment, investment money, and finding a way to recoup that investment.

I don’t think it’s possible for the one-time purchase of a $39-$99 DNA test, especially when it’s not a loss-leader for something else like a records or data subscription (MyHeritage and Ancestry) or a medical research partnership (Ancestry and 23andMe.)

We’re performing these analysis processes manually and piecemeal today. It’s extremely inefficient and labor-intensive – which is why it often fails. People give up. And the process is painful, even when it does succeed.

This process has also been made increasingly difficult when some vendors block tools that help genealogists by downloading match and ancestral tree information. Before Ancestry closed access, I was creating theories based on common ancestors in my matches trees that weren’t in mine – then testing those theories both genetically (clusters, AutoTrees and ThruLines) and also by digging into traditional records to search for the genetic connection.

For example, I’m desperate to identify the parents of my James Lee Clarkson/Claxton, so I sorted my spreadsheet by surname and began evaluating everyone who had a Clarkson/Claxton in their tree in the 1700s in Virginia or North Carolina. But I can’t do that anymore now, either with a third-party tool or directly at Ancestry. Twenty million DNA kits sold for a minimum of $79 equals more than 1.5 billion dollars. Obviously, the issue here is not a lack of funds.

Including Y and mitochondrial DNA resources in our genetic toolbox not only confirms accuracy but also provides additional hints and clues.

Sometimes we start with Y DNA or mitochondrial DNA, and wind up using autosomal and sometimes the reverse. These are not competing products. It’s not either/or – it’s *and*.

Personally, I don’t expect the vendors to provide this game-changing complex functionality for free. I would be glad to pay for a subscription for top-of-the-line innovation and tools. In what other industry do consumers expect to pay for an item once and receive constant life-long innovations and upgrades? That doesn’t happen with software, phones nor with automobiles. I want vendors to be profitable so that they can invest in new tools that leverage the power of computing for genealogists to solve currently unsolvable problems.

Every single end-of-line ancestor in your tree represents a brick wall you need to overcome.

If you compare the cost of books, library visits, courthouse trips, and other research endeavors that often produce exactly nothing, these types of genetic tools would be both a godsend and an incredible value.

That’s it.

That’s the challenge, a gauntlet of sorts.

Who’s going to pick it up?

I can’t answer that question, but I can say that 23andMe can’t do this without supporting extensive trees, and Ancestry has shown absolutely no inclination to support segment data. You can’t achieve this goal without segment information or without trees.

Among the current players, that leaves two DNA testing companies and a few top-notch third parties as candidates – although – as the past has proven, the future is uncertain, fluid, and everchanging.

It will be interesting to see what I’m writing at the end of 2025, or maybe even at the end of 2021.

Stay tuned.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Books

DNA Tidbit #4: Filter Matches by Country at MyHeritage

How many of you have ancestors who lived in other countries, either now or at one time? I see all those hands popping up! Me too.

At MyHeritage, you can filter your DNA matches by country.

If you’ve tested elsewhere, but not at MyHeritage, you can upload your DNA from another testing company to MyHeritage, here. Step-by-step instructions, if you need them, are here.

DNA Tidbit Challenge: Sign on to your MyHeritage account and filter your DNA matches by location.

It’s easy.

After opening your DNA match list, click on the filter icon to expose the filter options, then the down arrow shows available locations where your matches are from.

This is NOT where their ancestors are from – but where the tester themselves are from.

In my case, finding people who live in either the Netherlands or Germany and match me means there’s a good chance that they are from my mother’s Dutch or German lines since they immigrated to the US in the 1850s and 1860s.

click to enlarge

Glancing through my match list, I notice two who share a surname I recognize. Of course, I want to determine if these people match my mother’s side of the family.

Although Mom passed away long before MyHeritage began DNA testing, I do have her results at FamilyTreeDNA so I transferred them (free) to MyHeritage as well. You can click here to transfer.

If your parents haven’t DNA tested, and can’t, other close relatives such as aunts, uncles, grandparents, etc. will be useful too.

I clicked on “Review DNA Match” to review my matches information.

The first person doesn’t match my mother nor any recognizable close relatives from my father’s side, so this is likely an identical by chance (IBC) or false match.

The second person does match my mother but has not elected to compare matching segments. Unfortunately.

The common surname in their tree doesn’t reveal a common location, and their tree is very small, so my only clue left is the “Shared Ancestral Places” map.

The grey pins are my ancestors, and the black pins are my match’s ancestors.

Notice that we have clusters of ancestors in close proximity, some about 10 miles apart.

Without more robust tree information or without the ability to view DNA segments and look for triangulated matches, I’m not able to go further, at least not without contacting this match.

If my match enabled segment viewing, I would be able to paint this match at DNAPainter and likely know which line we share in common. I’ve written about how to use DNAPainter, here.

DNA Privacy Settings

Here’s how to enable segment viewing.

Your DNA Privacy settings at MyHeritage are located under the down-arrow by your profile name.

Next, click on “My DNA Preferences” and make your selection.

click to enlarge

Summary

The MyHeritage focus in Europe pays off handsomely for people whose ancestors hailed from there – or testers who live there today. Lots of Europeans test with MyHeritage.

I have 300 matches from the Netherlands and 221 from Germany. The MyHeritage feature that allows me to sort by location is very useful. I’ll be reviewing each of these matches.

I have fewer matches on these lines overall because those immigrant ancestors have fewer descendants in the US to test – so the ability to find matches to people who don’t have US lines is a real boon. If the match is valid, that narrows the possible common ancestors immediately.

In fact, I just noticed a Dutch match with 11 common surnames and a Theory of Family Relativity.

Hot diggity – look here. Those purple pins should be colored gold because they are common ancestor locations in our tree.

This person matches and triangulates with my mother and first cousin as well. I know what I’m doing for the rest of the day!

Now, it’s your turn.

What interesting tidbits can you find when filtering by country? Do you have people in unusual countries that you don’t recognize who match you? Check it out!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Books