DNAPainter Instructions and Resources

DNAPainter garden

DNAPainter is one of my favorite tools because DNAPainter, just as its name implies, facilitates users painting their matches’ segments on their various chromosomes. It’s genetic art and your ancestors provide the paint!

People use DNAPainter in different ways for various purposes. I utilize DNAPainter to paint matches with whom I’ve identified a common ancestor and therefore know the historical “identity” of the ancestors who contributed that segment.

Those colors in the graphic above are segments identified to different ancestors through DNA matching.

DNAPainter includes:

  • The ability to paint or map your chromosomes with your matching segments as well as your ethnicity segments
  • The ability to upload or create trees and mark individuals you’ve confirmed as your genetic ancestors
  • A number of tools including the Shared cM Tool to show ranges of relationships based on your match level and WATO (what are the odds) tool to statistically predict or estimate various positions in a family based on relationships to other known family members

A Repository

I’ve created this article as a quick-reference instructional repository for the articles I’ve written about DNAPainter. As I write more articles, I’ll add them here as well.

  • The Chromosome Sudoku article introduced DNAPainter and how to use the tool. This is a step-by-step guide for beginners.

DNA Painter – Chromosome Sudoku for Genetic Genealogy Addicts

  • Where do you find those matches to paint? At the vendors such as Family Tree DNA, MyHeritage, 23andMe and GedMatch, of course. The Mining Vendor Matches article explains how.

DNAPainter – Mining Vendor Matches to Paint Your Chromosomes

  • Touring the Chromosome Garden explains how to interpret the results of DNAPainter, and how automatic triangulation just “happens” as you paint. I also discuss ethnicity painting and how to handle questionable ancestors.

DNA Painter – Touring the Chromosome Garden

  • You can prove or disprove a half-sibling relationship using DNAPainter – for you and also for other people in your tree.

Proving or Disproving a Half Sibling Relationship Using DNAPainter

  • Not long after Dana Leeds introduced The Leeds Method of clustering matches into 4 groups representing your 4 grandparents, I adapted her method to DNAPainter.

DNAPainter: Painting the Leeds Method Matches

  • Ethnicity painting is a wonderful tool to help identify Native American or minority ancestry segments by utilizing your estimated ethnicity segments. Minority in this context means minority to you.

Native American and Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments

  • Creating a tree or uploading a GEDCOM file provides you with Ancestral Trees where you can indicate which people in your tree are genetically confirmed as your ancestors.

DNAPainter: Ancestral Trees

Of course, the key to DNA painting is to have as many matches and segments as possible identified to specific ancestors. In order to do that, you need to have your DNA working for you at as many vendors as possible that provide you with matching and a chromosome browser. Ancestry does not have a browser or provide specific paintable segment information, but the other major vendors do, and you can transfer Ancestry results elsewhere.

DNA Transfers

Some vendors don’t require you to test at their company and allow transfers into their systems from other vendors. Those vendors do charge a small fee to unlock their advanced features, but not as much as testing there.

Ancestry and 23andMe DO NOT allow transfers of DNA from other vendors INTO their systems, but they do allow you to download your raw DNA file to transfer TO other vendors.

Family Tree DNA, MyHeritage and GedMatch all 3 accept files uploaded FROM other vendors. Family Tree DNA and MyHeritage also allow you to download your raw data file to transfer TO other vendors.

These articles provide step-by-step instructions how to download your results from the various vendors and how to upload to that vendor, when possible.

Here are some suggestions about DNA testing and a transfer strategy:

Paint and have fun!!!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Mitochondrial DNA Resources – Everything You Need to Know

Mitochondrial DNA Resources

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

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

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

What the Difference Between Mitochondrial and Other Types of DNA?

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

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

Why Mitochondrial DNA?

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

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

What About Those Results?

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

Mitochondrial DNA personal page

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

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

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

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

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

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

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

Mitochondrial DNA Information for Everyone

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

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

Mitochondrial resources haplotree

These are mine. Where are yours?

What Can Mitochondrial DNA Do for You?

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

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

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

Searching for Native American Ancestors?

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

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

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

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

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

What secrets will your mitochondrial DNA reveal?

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

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Native American & Minority Ancestors Identified Using DNAPainter Plus Ethnicity Segments

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

Reasons to be cautious about ethnicity estimates include:

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

Ethnicity states over Europe

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

Noise in this case is defined as:

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

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

On the Other Hand

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

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

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

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

beringia map

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

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

Family Inheritance

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

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

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

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

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

23andMe

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

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

Minority ethnicity ancestry composition.png

Scroll down until you see your painted chromosomes.

Minority ethnicity chromosome painting.png

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

Minority ethnicity Native.png

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

Versions May Differ

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

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

Minority ethnicity Native V4.png

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

Minority ethnicity sides.png

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

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

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

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

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

Downloading Ethnicity Segment Data

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

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

MInority ethnicity scientific details.png

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

Minority ethnicity download raw data.png

Save this spreadsheet to your computer in a known location.

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

Minority ethnicity download.png

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

DNAPainter

I wrote introductory articles about DNAPainter:

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

Go ahead – I’ll wait!

Getting Started

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

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

Minority ethnicity DNAPainter.png

Click on “Import 23andme ancestry composition.”

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

Minority ethnicity DNAPainter sides.png

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

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

MInority ethnicity DNAPainter Native painting

Click to enlarge

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

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

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

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

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

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

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

Minority ethnicity maternal side

Click to enlarge

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

Minority ethnicity chromosome 1.png

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

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

Minority ethnicity chromosome 2.png

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

Minority ethnicity common ancestor.png

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

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

Traditional Genealogy Research

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

Minority ethnicity Acadian map.png

The Acadians intermarried with the Mi’kmaq people.

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

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

Minority ethnicity Native mitochondrial tree

Click to enlarge

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

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

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

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

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

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

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

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

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

Segments, Traditional Research and DNAPainter

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

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

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

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

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

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

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

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

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

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

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

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

Projects

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

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

Minority ethnicity project search.png

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

23andMe Maternal and Paternal Sides

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

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

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

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

Minority ethnicity minority segment.png

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

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

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

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

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

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

Minority ethnicity relative connections.png

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

Minority ethnicity relative minority segments.png

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

Minority ethnicity Native side.png

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

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

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

Minority ethnicity match side.png

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

Download All of Your Matches

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

Minority ethnicity download aggregate data.png

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

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

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

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

Paint Those Matches

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

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

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

To Paint, You Must Test

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

Transfers

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

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

Here’s a quick cheat sheet.

DNA vendor transfer cheat sheet 2019

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

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

Summary Steps

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

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

Have fun!

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Concepts – Endogamy and DNA Segments

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

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

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

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

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

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

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

I’ve used three people as examples:

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

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

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

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

Non-Endogamous European Individual

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

Endogamy non-endogamous.png

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

Endogamy non-endogamous 1cM.png

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

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

Endogamy non-endogamous 7cM.png

Ashkenazi Jewish Individual

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

Endogamy Jewish.png

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

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

Endogamy Jewish 1cM.png

At 7cM, the following:

Endogamy 7cM.png

Native American Individual

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

Endogamy Native.png

At 1 cM shown below:

Endogamy Native 1cM.png

At 7 cM, below:

Endogamy Native 7cM.png

Side by Side

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

endogamy side by side.png

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

Summary Comparison Chart

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

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

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

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

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

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

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

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

2018 – The Year of the Segment

Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

______________________________________________________________

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Ethnicity is Just an Estimate – Yes, Really!

Lots of people will have received DNA tests as gifts over the holidays. This pleases me to no end, because I know I’ll match any number of them and maybe, just maybe, those matches will help me fill in those pesky blanks in my tree or break down brick walls.

However, for the most part, those testers probably aren’t genealogists, at least not yet. They are most likely curious about “who they are” or didn’t even realize they might be curious about anything until they unwrapped that gift and discovered a DNA test inside.

Let’s hope they test with one of the major 4 companies, being Family Tree DNA, MyHeritage, Ancestry or 23andMe. (Sale prices are still in effect.) Some additional firms are certainly reputable and provide ethnicity only tests (meaning no matching), such as the Genographic Project, LivingDNA and Insitome, but then there are also a growing number of questionable pop-up DNA testing, upload sites and interpretation “services.” And yes, I’m using that word loosely. Buyer beware.

For genealogists, the gold is in the cousin matching. We already know that DNA is more than ethnicity, and ethnicity is far more than percentages.

Ethnicity, for the most part, is a shiny red bauble that the magic wand of advertising transforms from a diamond in the rough into the glittery Hope diamond with a free kilt to lederhosen conversion (or vice versa) thrown in to boot.

Ethnicity bauble

Yay – Results are Back

Everyone who received DNA test kits during the holiday season has hopefully spit or swabbed and mailed and is now waiting excitedly. Waiting is always the hardest part!

Soon, they will be discussing their ethnicity results. Reactions will vary, swinging like a pendulum – and you may well get to help interpret.

  • Some people will be thrilled because their results will confirm what they see or believe and their family stories. For example, if their family carries oral history of a Native American ancestor and their DNA ethnicity results show Native American heritage, they’ll be thrilled.
  • Some people will be pleasantly surprised with whatever information they receive – treating their ethnicity results as a nice package to unwrap, regardless of what’s inside.
  • Another large group will be confused? My mother said her grandmother was French! Why don’t I see France? Substitute <country of your choice> for French/France.
  • And then we have the truly upset. The distraught. The entirely disbelieving. “My great-grandmother was a full-blood Cherokee. Why don’t I show Native American? These tests are wrong!”
  • Some people will doubt their parentage based on ethnicity results alone. This is NOT under any circumstances appropriate. Please have them read Ethnicity and Physical Features are NOT Accurate Predictors of Parentage or Heritage.

Explanations

To help people understand, you may need to explain about how Native Americans, especially east of the Mississippi were admixed very early in our national history, so their “fully Native” ancestor probably wasn’t.

You can explain about how autosomal DNA is diluted in each generation since their Native (or French, or Italian, etc.) ancestor lived – to the point that the Native DNA might not show today.

You can talk about reference populations, or the lack thereof, and that people in France and Israel can’t legally take DNA tests for recreational purposes.

You can educate people about how we all need to research our genealogy, and how, as Blaine Bettinger writes in this classic article, we have both a genetic and genealogical tree. The ancestors are always there in our tree, but we may not have inherited measurable DNA from a particular individual if they are several generations back in time.

If that coveted Native ancestor doesn’t appear in their DNA, then they need to look in their family tree. She or he might be waiting there, AND, they may still be able to prove their Native heritage using either Y or mitochondrial DNA testing at Family Tree DNA.

There’s more than one kind of DNA and more than one way to prove Native heritage.

The Underlying Truth

But the truth of the matter is, while each and every one of those statements above is entirely valid, the fundamental truth about ethnicity testing is that…

Ethnicity percentages.png

Yes, really.

Let’s take a look at some of the reasons why.

Size Matters

Everyone in the Americas (except for Native American, First Nations or aboriginal peoples) wants to know where their ancestors “came from.” As genealogists, we deal with no records, damaged records, misplaced records, burned records, rapid westward migration with no links “back home” and at least three wars on our soil. It’s no wonder that we often can’t track those ancestors back across the pond or even to the shore.

Therefore, we hope that DNA testing can help us bridge that gap. And indeed, both Y and mitochondrial DNA testing is wonderful for doing just that for matrilineal and patrilineal lines.

But ethnicity results, in most cases, are really only useful for making continental-level discoveries. What we really want, refinement and granularity to the country level within Europe, for example, isn’t really feasible.

Size is part of the reason why. Look at the size of the contiguous 48 US states as compared to Europe, courtesy thetruesize.com.

Ethnicity US over Europe.png

Would you expect to be able to tell the genetic difference between people that live in Washington State from people that live in Idaho? That’s roughly the same distance as from the UK to Germany. France is located down in California and Nevada.

Can you tell the difference genetically between people who live in Washington State from California or Nevada? That idea sounds rather preposterous when you look at it that way. Now, is it any wonder that your ancestor’s “French” doesn’t show up, but German does?

Ethnicity Texas over Europe

Here’s Texas compared to Europe. Can you tell the people in Dallas from the people who live in San Antonio from the people who live in Houston, genetically? That’s the same difference as Germany, Italy and Austria. The Czech Republic is over near Shreveport. You get the drift.

Western European Countries are the Size of US States

Western European countries are even more difficult.

Ethnicity states over Europe

How about discerning the difference between Indiana and Illinois residents, or Illinois and Missouri? European countries are the size of medium sized US states. Larger states, like Texas cover most of the Iberian Peninsula including Spain and Portugal and reach over into Morocco.

To make this relatively small region even more complex, people have moved freely across these areas for thousands of years. The people from the Russian Steppes moved into Eastern Europe displacing and assimilating with the hunter-gatherer population that had resided there for millennia.

The Germanic tribes moved towards the coast and into the British Isles. The people from “Indiana and Ohio” moved into “Illinois” and then that entire group populated parts of Scandinavia. According to a recent genetic paper, some of those “New Yorkers” and on east moved into Scandinavia too.

Oh, and the Sephardic Jewish people moved from the Middle East into “Texas” aka Spain and then on up to “Indiana, Ohio and Pennsylvania” some 500 years ago to join their Ashkenazi brethren. Fortunately, Jewish people generally stayed together and didn’t intermarry or assimilate much into the local population, so we can still identify them genetically.

Europe is indeed a great melting pot.

Ethnicity Alaska and states over Europe and Asia

Adding the largest US state, Alaska onto the map makes the rest of the states and their corresponding European countries look really tiny.

Ethnicity is Really Only Reliable at a Continental Level

Ethnicity really is only reliable at a continental level, plus Jewish and in particular, Ashkenazi. Very small or trace percentages may not be reliable at all. We’ll discuss ways to prove or disprove minority admixture in my next article, Minority Ethnicity Percentages – True or False?.

This continental-level-only phenomenon is more understandable if you look at a world map.

Ethnicity continents

It’s extremely difficult to discern any reliable level of granularity between regions as tiny as US states in Europe, no matter how badly testers want to know. Of course, that doesn’t keep the testing companies from trying, and kudos to them. As they make improvements, your intra-continental estimates will change over time – so don’t fall in love with them. And don’t trade that lederhosen for a kilt or vice versa – or get that Viking tattoo just yet.

It’s much more reasonable to rely on ethnicity estimates based on much larger regions, where people after migration have been separated from people in the other regions for a much longer period of time, allowing time for unique mutations to develop.

Less admixture happens with greater geographic distance. People who aren’t neighborly don’t produce offspring because begetting requires proximity. Mutations that occurred after the populations split into different regions are found only in the new or the old populations, but not both – at least not in high frequencies. Of course, population boundaries are fluid and people (continue to) move from place to place, back and forth.

What You Can Do!

When your family and friends begin to discuss their confusion or disappointment with their ethnicity results, you’ll have this article to explain the situation visually. Please feel free to share and encourage them to learn more.

Sometimes it’s difficult to be the cold voice of reason in a positive way, but there is so much more to learn. I always hope to spark curiosity about why, and then provide ways that the person can fall in love with discovering their ancestors and ancestry.

Another good resource is the article, Ethnicity Testing – A Conundrum which explains how DNA ethnicity testing actually works – in terms that everyone can understand.

If your family is wondering what happened to their Native American DNA, you’re not alone. I’ve put together a page of Native American Resources to help everyone!

Have fun, enjoy and let’s hope that newly baptized ethnicity testers will like the water enough to engage in a bit of genealogy. You can encourage them by helping construct their first tree by recording what they know about their parents and grandparents. Maybe give them a taste of success by helping them find a record or two. Give them a taste of genealogy crack.

You never know, it just might be habit forming!

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Disclosure

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

Thank you so much.

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

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

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

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

This is the first of a series of two articles.

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

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

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

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

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

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

Family Stories and DNA

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

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

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

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

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

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

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

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

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

Enter DNA Testing

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

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

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

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

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

Unexpected Results

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

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

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

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

50-50 Chance

Everyone receives half of their autosomal DNA from each parent.

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

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

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

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

Why Call Ethnicity an Estimate?

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

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

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

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

Parental Phasing – Identical by Descent

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

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

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

This is known as Identical by Chance (IBC).

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

Elizabeth Warren’s Genealogy

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

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

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

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

Elizabeth Warren’s DNA Results

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

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

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

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

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

From that paper:

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

And:

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

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

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

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

Elizabeth’s request, from the report:

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

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

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

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

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

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

Dr. Bustamante’s Conclusion:

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

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

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

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

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

Here’s our example again.

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

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

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

Questions and Answers

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

Question – Can these results prove that Elizabeth is Cherokee?

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

Q – Are these results absolutely positive?

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

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

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

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

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

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

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

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

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

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

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

Q – Does this qualify Elizabeth to join a tribe?

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

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

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

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

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

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

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

Roberta’s Summary of the Analysis

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

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

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

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

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

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

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Disclosure

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

Thank you so much.

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Milestone! 1000 Articles About Genetic Genealogy

Today is a big day for DNA-eXplained. I christened this blog on July 11, 2012 with an invitation for the world of genetic genealogy to follow along. Wow, what a ride!

Today, about 5 weeks shy of the blog’s 6th birthday, I’m publishing my 1000th article – this one. I don’t even want to know how many words or pages, but I do know I’ve gone through two keyboards – worn the letters right off the keys.

My original goal in 2012 was to publish one article per week. That would have been 307 articles this week. I’ve averaged 3.25 articles a week. That’s almost an article every other day, which even surprises me!

That’s wonderful news for my readers because it means that there is so much potential in the genetic genealogy world that I need to write often. Even so, I always feel like there is so much to say – so much that needs to be taught and that I’ll never catch up.

I wonder, which have been the most popular articles?

Most Popular Articles

The most popular article has received almost a million views.

I’m not surprised that the article about Native American heritage and DNA testing is number one. Many people want to verify their family stories of Native American ancestry. It was and remains a very large motivation for DNA testing.

One link I expected to see on this list, but didn’t, is my Help page. Maybe because it’s a page and not an article? Maybe I should publish it as an article too. Hmmm….

What Do These Articles Have In Common?

Four are about ethnicity, which doesn’t surprise me. In the past couple of years, one of the major testing companies has pushed ethnicity testing as a “shortcut” to genealogy. That’s both a blessing and a curse.

Unfortunately, it encourages a misperception of DNA testing and what it can reasonably do, causing dissatisfaction and kit abandonment. Fortunately, advertising encourages people to test and some will go on to get hooked, upload trees and engage.

The good news is that judging from the popular articles, at least some people are researching ethnicity testing – although I have to wonder if it’s before or after they receive their test results.😊

Three articles are specifically about Native American heritage, although I suspect people who discover that they don’t carry as much Native as they expected are also reading ethnicity articles.

Two articles are specifically not about autosomal results, which pleases me because many autosomal testers don’t know about Y and mitochondrial DNA, or if they do, they don’t understand what it can do for them or how to utilize results.

Several articles fall into the research category – meaning an article someone might read to decide what tests to purchase or how to understand results.

Key Word Searchable

One of the things I love about WordPress, my blogging platform, is that DNA-eXplained is fully keyword searchable. This means that you can enter any term you want to find in the search box in the upper right-hand corner and you’ll be presented with a list of articles to select from.

For example, if you enter the phrase “Big Y,” you’ll find every article, beginning with the most recent that either has those words in the title, the text or as a tag or category.

Go ahead, give it a try. What would you like to learn about?

More Tools – Tags and Categories

Tags and categories help you find relevant information and help search engines find relevant articles when you “Google” for something.

If you scroll down the right-hand sidebar of the blog, you’ll see, in order:

  • Subscription Information
  • Family Tree DNA ad
  • Award Received
  • Recent Posts
  • Archives by date
  • Categories
  • Tags
  • Top Posts and Pages

Bloggers categorize their articles, so if you want to view the articles I’ve categorized as “Acadians” or “Art,” for example, just click on that link.

I use Tags as a more general article categorization. Tags are displayed in alphabetical order with the largest font indicating the tags with the most tagged articles.

You can see that I categorize a lot of articles as Basic Education and General Information. You can click on any tag to read those articles.

My Biggest Surprise

I’ve been asked what’s the most surprising thing that I’ve learned.

I very nearly didn’t publish my 52 Ancestors series because I didn’t think people would be interested in my own family stories about my ancestors and the search that uncovered their history.

Was I ever wrong. Those stories, especially the research techniques, including DNA of course, have been extremely well received. I’ve learned that people love stories.

Thank you for the encouragement. This next week will be the 197th article in that series.

I encourage everyone to find a way to tell the story of your ancestors too. If you don’t, who will?

My Biggest Disappointment

I think my biggest disappointment has been that not enough people utilize the information readily available on the blog. By this, I mean that I see questions on Facebook in multiple groups every day that I’ve already written about and answered – sometimes multiple times in different ways.

This is where you can help. If you see questions like that, please feel free to share the love and post links to any articles. With roughly 12 million testers today and more before year end – there are going to be lots of questions.

Let’s make sure they receive accurate answers.

Sharing

Please feel free to share and post links to any of my articles. That’s the purpose. You don’t need to ask permission.

If you would like to reproduce an article for any reason, please contact me directly.

Most of all, read, enjoy and learn. Encourage others to do so as well. The blog is free for everyone, but any support you choose to give by way of purchasing through affiliate links is greatly appreciated. It doesn’t cost you more, but a few cents comes my way from each purchase through an affiliate link to help support the blog.

What’s Coming?

I have a few articles in process, but I’d like to know what you’d like to see.

Do you have suggestions? Please leave them in the comments.

I’ve love to hear from you and I often write articles inspired by questions I receive.

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Thank You

There’s so much available today – it’s a wonderful time to be a genealogist that’s using DNA. There used to be a difference between a genealogist and a genetic genealogist – but I think we’ve moved past that stage and every genealogist should be utilizing all aspects of DNA (Y, mitochondrial, autosomal and X) as tools.

Thank you for subscribing, following or however you read these articles. You’re an amazing audience. I’ve made the unexpected wonderful discovery that many of you are my cousins as well.

Thanks to you, I’ve unraveled mysteries I never thought would be solved. I’ve visited ancestral homelands as a result of your comments and assistance. I’ve met amazing people. Yes, that means YOU!

I’m extremely grateful. I started this blog to help other people, never imagining how much it would help me too.

I love writing for you, my extended family.

Enjoy and Happy Ancestor Hunting!

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Disclosure

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

Thank you so much.

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Cherokee Ancestry – The Most Persistent Native American Family Legend

Cól-lee, a Band Chief, painted at Fort Gibson in 1834 by George Catlin who refers to the subject as Jol-lee in Letters and Notes. Also known as John Jolly who died in 1838.

“An aged and dignified chief. … This man … as well as a very great proportion of the Cherokee population, has a mixture of red and white blood in his veins, of which, in this instance, the first seems decidedly to predominate” (Letters and Notes, vol. 2, p. 119, pl. 217).

Does Your Family Have a Cherokee Story?

It seems that just about every family with a lineage east of the Mississippi before about 1800 has a Cherokee Indian ancestor – at least according to oral history passed down in the family. I certainly did, even though the person in my tree who was supposed to be Native was subsequently proven to have no Native ancestry. In that process, I did, however, find different lines that have been proven to be Native using genealogical records along with mitochondrial and Y DNA testing.

Does your family have a “Cherokee story”? Has DNA testing proven or disproven your family lore? Have you been disappointed by an ethnicity test? Have you had any luck proving that lineage with traditional genealogical research? Many people are disappointed that their family has claimed Cherokee heritage, sometimes for generations, but they have been unable to corroborate that information by either genetic or traditional research methods.

There are lots of reasons this might happen, including the possibility that your ancestors weren’t Native. But that’s not the only reason. A recent article in Slate is one of the best I’ve read that presents the reasons without undue drama or prejudice.

Before you read the article, I want to make four things crystal clear:

  • Having no discernable Native DNA in ethnicity tests does NOT mean you DON’T have a Native ancestor. It only means that you need to do traditional genealogy to find that ancestor, combined with Y and mtDNA testing of relevant family lineages. Y and mtDNA is the only way to prove or disprove who in your tree was Native other than through genealogy research, unless that Native ancestor was in a very recent generation.
  • Showing small percentages of Native DNA in ethnicity tests does NOT mean you DO have a Native ancestor. Small amounts can be noise or can be residual from a common Asian population source. For example, I have seen German people with as much as 3% Native American DNA, which clearly isn’t. You need more evidence before confirming Native ancestry.
  • Without additional research, you cannot prove your lineage to a tribe using DNA – no matter what any company tells you, although Y and mitochondrial DNA matching may lend important clues. Family Tree DNA is the only testing company that combines Y and mitochondrial testing, matching and maps.
  • No matter how much Native DNA you have, only a tribe can tell you how to qualify for their membership – and each tribe’s rules differ. You’ll need to contact the tribe directly for that information. DNA identified as Native through DNA testing for genealogy (alone) will not qualify you for tribal membership in any federally US recognized tribe.

For a comprehensive list of resources, please refer to Native American DNA Resources.

Now, for the Slate article:
Why Do So Many Americans Think They Have Cherokee Blood?

Enjoy.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

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Genealogy Research

Native American DNA Resources

Spokane and Flathead men circa 1904

I receive lots of questions every day about testing for Native American DNA, ethnicity, heritage and people who want to find their tribe.

I’ve answered many questions in articles, and I’ve assembled those articles into this handy-dandy one-stop reference about Native American DNA testing.

Where to Start?

If you are searching for your Native American heritage or your tribe, first, read these two articles:

Father’s and Mother’s Direct Lines

Y DNA is inherited by men from their direct paternal line, and mitochondrial DNA is inherited by both genders from their mother’s direct matrilineal line. You can read a short article about how this works, here.

If you’re interested in checking a comprehensive list to see if your mitochondrial DNA haplogroup is Native American, I maintain this page of all known Native American haplogroups:

Information about Native American Y DNA, subsets of haplogroup Q and C:

How Much Native Do You Have?

Estimating how much of your Native ancestor’s DNA you carry today:

Projects – Joining Forces to Work Together

Native American DNA Projects you can join at Family Tree DNA:

Regardless of which other projects you choose to join, I recommend joining the American Indian project by clicking on the Project button on the upper left hand side of your personal page.

News and How To

Some articles are more newsy or include how-to information:

Utilizing Haplogroup Origins and Ancestral Origins at Family Tree DNA:

I’ve written about several individual Native haplogroups and research results. You can see all of articles pertaining to Native American heritage by entering the word “Native” into the search box on the upper right hand corner of my blog at www.dna-explained.com.

Ancient Native Remains

Which Tests?

Family Tree DNA is the only vendor offering comprehensive Y and mitochondrial DNA testing, meaning beyond basic haplogroup identification. However, there are several levels to select from. Several vendors offer autosomal testing, which includes ethnicity estimates.

These articles compare the various types of tests and the vendors offering the tests:

Additional Resources

My blog, Native Heritage Project is fully searchable:

For other DNA related questions, please check the Help page, here.

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research