Autosomal DNA Transfers – Which Companies Accept Which Tests?

Somehow, I missed the announcement that Family Tree DNA now accepts uploads from MyHeritage.

Update – Shortly after the publication of this article, I was notified that the MyHeritage download has been disabled and they are working on the issue which is expected to be resolved shortly.  Family Tree DNA is ready when the MyHeritage downloads are once again functional.

Other people may have missed a few announcements too, or don’t understand the options, so I’ve created a quick and easy reference that shows which testing vendors’ files can be uploaded to which other vendors.

Why Transfer?

Just so that everyone is on the same page, if you test your autosomal DNA at one vendor, Vendor A, some other vendors allow you to download your raw data file from Vendor A and transfer your results to their company, Vendor B.  The transfer to Vendor B is either free or lower cost than testing from scratch.  One site, GedMatch, is not a testing vendor, but is a contribution/subscription comparison site.

Vendor B then processes your DNA file that you imported from Vendor A, and your results are then included in the database of Vendor B, which means that you can obtain your matches to other people in Vendor B’s data base who tested there originally and others who have also transferred.  You can also avail yourself of any other tools that Vendor B provides to their customers.  Tools vary widely between companies.  For example, Family Tree DNA, GedMatch and 23andMe provide chromosome browsers, while Ancestry does not.  All 3 major vendors (Family Tree DNA, Ancestry and 23andMe) have developed unique offerings (of varying quality) to help their customers understand the messages that their unique DNA carries.

Ok, Who Loves Whom?

The vendors in the left column are the vendors performing the autosomal DNA tests. The vendor row (plus GedMatch) across the top indicates who accepts upload transfers from whom, and which file versions. Please consider the notes below the chart.

  • Family Tree DNA accepts uploads from both other major vendors (Ancestry and 23andMe) but the versions that are compatible with the chip used by FTDNA will have more matches at Family Tree DNA. 23andMe V3, Ancestry V1 and MyHeritage results utilize the same chip and format as FTDNA. 23andMe V4 and Ancestry V2 utilize different formats utilizing only about half of the common locations. Family Tree DNA still allows free transfers and comparisons with other testers, but since there are only about half of the same DNA locations in common with the FTDNA chip, matches will be fewer. Additional functions can be unlocked for a one time $19 fee.
  • Neither Ancestry, 23andMe nor Genographic accept transfer data from any other vendors.
  • MyHeritage does accept transfers, although that option is not easy to find. I checked with a MyHeritage representative and they provided me with the following information:  “You can upload an autosomal DNA file from your profile page on MyHeritage. To access your profile page, login to your MyHeritage account, then click on your name which is displayed towards the top right corner of the screen. Click on “My profile”. On the profile page you’ll see a DNA tab, click on the tab and you’ll see a link to upload a file.”  MyHeritage has also indicated that they will be making ethnicity results available to individuals who transfer results into their system in May, 2017.
  • LivingDNA has just released an ethnicity product and does not have DNA matching capability to other testers.  They also do not provide a raw DNA download file for customers, but hope to provide that feature by mid-May. Without a download file, you cannot transfer your DNA to other companies for processing and inclusion in their data bases. Living DNA imputes DNA locations that they don’t test, but the initial download, when available, file will only include the DNA locations actually tested. According to LivingDNA, the Illumina GSA chip includes 680,000 autosomal markers. It’s unclear at this point how many of these locations overlaps with other chips.
  • WeGene’s website is in Chinese and they are not a significant player, but I did include them because GedMatch accepts their files. WeGene’s website indicates that they accept 23andme uploads, but I am unable to determine which version or versions. Given that their terms and conditions and privacy and security information are not in English, I would be extremely hesitant before engaging in business. I would not be comfortable in trusting on online translation for this type of document. SNPedia reports that WeGene has data quality issues.
  • GedMatch is not a testing vendor, so has no entry in the left column, but does provide tools and accepts all versions of files from each vendor that provides files, to date, with the exception of the Genographic Project.  GedMatch is free (contribution based) for many features, but does have more advanced functions available for a $10 monthly subscription.
  • The Genographic Project tested their participants at the Family Tree DNA lab until November 2016, when they moved to the Helix platform, which performs an exome test using a different chip.
  • The Ancestry V2 chip began processing in May 2016.
  • The 23andMe V3 chip began processing in December 2010. The 23andMe V4 chip began processing in November 2013.

Incompatible Files

Please be aware that vendors that accept different versions of other vendors files can only work with the tested locations that are in the files generated by the testing vendors unless they use a technique called imputation.

For example, Family Tree DNA tests about 700,000 locations which are on the same chip as MyHeritage, 23andMe V3 and Ancestry V1. In the later 23andMe V4 test, the earlier 23andMe V2 and the Ancestry V2 tests, only a portion of the same locations are tested.  The 23andMe V4 and Ancestry V2 chips only test about half of the file locations of the vendors who utilize the Illumina OmniExpress chip, but not the same locations as each other since both the Ancestry V2 and 23andMe V4 chips are custom. 23andMe and Ancestry both changed their chips from the OmniExpress version and replaced genealogically relevant locations with medically relevant locations, creating a custom chip.

I know this if confusing, so I’ve created the following chart for chip and test compatibility comparison.

You can easily see why the FTDNA, Ancestry V1, 23andMe V3 and MyHeritage tests are compatible with each other.  They all tested utilizing the same chip.  However, each vendor then applies their own unique matching and ethnicity algorithms to customer results, so your results will vary with each vendor, even when comparing ethnicity predictions or matching the same two individuals to each other.

Apples to Apples to Imputation

It’s difficult for vendors to compare apples to apples with non-compatible files.

I wrote about imputation in the article about MyHeritage, here. In a nutshell, imputation is a technique used to infer the DNA for locations a vendor doesn’t test (or doesn’t receive in a transfer file from another vendor) based on the location’s neighboring DNA and DNA that is “normally” passed together as a packet.

However, the imputed regions of DNA are not your DNA, and therefore don’t carry your mutations, if any.

I created the following diagram when writing the MyHeritage article to explain the concept of imputation when comparing multiple vendors’ files showing locations tested, overlap and imputed regions. You can click to enlarge the graphic.

Family Tree DNA has chosen not to utilize imputation for transfer files and only compares the actual DNA locations tested and uploaded in vendor files, while MyHeritage has chosen to impute locations for incompatible files. Family Tree DNA produces fewer, but accurate matches for incompatible transfer files.  MyHeritage continues to have matching issues.

MyHeritage may be using imputation for all transfer files to equalize the files to a maximum location count for all vendor files. This is speculation on my part, but is speculation based on the differences in matches from known compatible file versions to known matches at the original vendor and then at MyHeritage.

I compared matches to the same person at MyHeritage, GedMatch, Ancestry and Family Tree DNA. It appears that imputed matches do not consistently compare reliably. I’m not convinced imputation can ever work reliably for genetic genealogy, because we need our own DNA and mutations. Regardless, imputation is in its infancy today.

To date, two vendors are utilizing imputation. LivingDNA is using imputation with the GSA chip for ethnicity, and MyHeritage for DNA matching.

Summary

Your best results are going to be to test on the platform that the vendor offers, because the vendor’s match and ethnicity algorithms are optimized for their own file formats and DNA locations tested.

That means that if you are transferring an Ancestry V1 file, a 23andMe V3 file or a MyHeritage file, for example, to Family Tree DNA, your matches at Family Tree DNA will be the same as if you tested on the FTDNA platform.  You do not need to retest at Family Tree DNA.

However, if you are transferring an Ancestry V2 file or 23andMe V4 file, you will receive some matches, someplace between one quarter and half as compared to a test run on the vendor’s own chip. For people who can’t be tested again, that’s certainly better than nothing, and cross-chip matching generally picks up the strongest matches because they tend to match in multiple locations. For people who can retest, testing at Family Tree DNA would garner more matches and better ethnicity results for those with 23andMe V2 and V4 tests as well as Ancestry V2 tests.

For absolutely best results, swim in all of the major DNA testing pools, test as many relatives as possible, and test on the vendor’s Native chip to obtain the most matches.  After all, without sharing and matching, there is no genetic genealogy!

All Matches Now FREE at Family Tree DNA for Transfer Kits

Family Tree DNA just sent the following e-mail to the project administrators regarding the new Ancestry and 23andMe file upload ability. It’s full of good news! This information is in addition to my article this morning, available here.

Exciting new points are that ALL of your matches are free for transfer kits, not just the first 20 matches. In addition, the matrix feature is free too, so you can see if your matches also match each other. Great added free features and a reduced unlock price for the rest of Family Tree DNA’s nine autosomal tools.

Did you already upload your results, but never unlocked? Now you can unlock for just $19.

family tree dna logo

Dear Project Administrators,

You’ve all been waiting for it, and it’s finally here – transfers for 23andMe© V4 and AncestryDNA™ V2 files!

Here are the details, point by point.

  • Customers can now transfer 23andMe© V4 and AncestryDNA™ V2 files in addition to the 23andMe© V3 and AncestryDNA™ V1 files that Family Tree DNA accepted previously. MyHeritage and Genographic transfers will be supported in the coming weeks.
  • Family Tree DNA still does not accept 23andMe© processed prior to November 2010. A Family Finder test will need to be purchased.
  • 23andMe© V3 and AncestryDNA™ V1 now receive a full list of matches and the ability to use the Matrix feature FOR FREE. For only $19, the customer can unlock the Chromosome Browser, myOrigins, and ancientOrigins.

ftdna-myorigins-transfer

  • 23andMe© V4 and AncestryDNA™ V2 receive all but the most speculative matches (6th to remote cousins), also for free. After transferring, if the customer wants to receive speculative matches, they will have to submit a sample and have a Family Finder run at the reduced price of $59.
  • Matches should take somewhere between one and 24 hours to appear, depending on the volume of tests in the autosomal pipeline.
  • myOrigins update will be released in the coming weeks. Until then transfers will include only broad populations.
  • Additionally, all previously transferred files that have not been unlocked will receive their matches and have access to the Matrix feature for free as long as the release form is signed.  These kits will be also be able to unlock the other Family Finder features for $19. If the transfer was on a kit with another product where the release form has already been signed, then the matches will appear with no further action necessary.
  • The Autosomal Transfer webpage has been enhanced to include a new image and a FAQ section. The FAQ section is displayed towards the bottom of the page.

ftdna-new-transfer

  • If a customer tries to transfer the same autosomal file a second time, a message will be displayed that the file is a duplicate and will list the kit number of the original kit.
  • The main Autosomal Transfer topic in the Learning Center has been updated. This topic contains the most recent information and now includes all transfer subtopics on the same page. Additional FAQ information will be added to this topic as needed in the future.

Click here to get started!!!

Family Tree DNA Now Accepts All Ancestry Autosomal Transfers Plus 23andMe V3 and V4

Great news!

Family Tree DNA now accepts autosomal file transfers for all Ancestry tests (meaning both V1 and V2) along with 23andMe V3 and V4 files.

Before today, Family Tree DNA had only accepted Ancestry V1 and 23andMe V3 transfers, the files before Ancestry and 23andMe changed to proprietary chips. As of today, Family Tree DNA accepts all Ancestry files and all contemporary 23andMe files (since November 2013).

You’ll need to download your autosomal raw data file from either Ancestry or 23andMe, then upload it to Family Tree DNA. You’ll be able to do the actual transfer for free, and see your 20 top matches – but to utilize and access the rest of the tools including the chromosome browser, ethnicity estimates and the balance of your matches, you’ll need to pay the $19 unlock fee.

Previously, the unlock fee was $39, so this too is a great value. The cost of purchasing the autosomal Family Finder test at Family Tree DNA is $79, so the $19 unlock fee represents a substantial savings of $60 if you’ve already tested elsewhere.

To get started, click here and you’ll see the following “autosomal transfer” menu option in the upper left hand corner of the Family Tree DNA page:

ftdna-transfer

The process is now drag and drop, and includes instructions for how to download your files from both 23andMe and Ancestry.

ftdna-transfer-instructions

Please note that if you already have an autosomal test at Family Tree DNA, there is no benefit to adding a second test.  So if you have taken the Family Finder test or already transferred an Ancestry V1 or 23andMe V3 kit, you won’t be able to add a second autosomal test to the same account.  If you really want to transfer a second kit, you’ll need to set up a new account for the second autosomal kit, because every kit at Family Tree DNA needs to be able to have it’s own unique kit number – and if you already have an autosomal test on your account, you can’t add a second one.

What will you discover today? I hope you didn’t have anything else planned. Have fun!!!

Calling HOGWASH on 23andMe’s Ancestry Timeline

Every now and then, I’m aghast when I look at a product and wonder how the devil it ever escaped the lab.  Is there no quality control?  And who thought it was a good idea, anyway, and why?

23andMe’s new Ancestry Timeline, released last week, is one of those.

Not only is it incorrect, but it deceives people into believing something that isn’t true.

Let’s take a look.

23andme-timeline

My Ancestry Timeline at 23andMe is shown above. I notice that my Middle Eastern/North African is missing from the timeline.  It’s less than 1%, but then so is my Native American which is included.

You can see in the text underneath the timeline that 23andMe says this timeline reflects how long ago my MOST RECENT ancestor in that geographic location was born.

Let’s compare this with reality.  You may recall that I recently wrote the article, Concepts – Calculating Ethnicity Percentages. In that article, I utilized my known and proven genealogy for my 64 great-great-great-great-grandparents to calculate what my ethnicity results should look like.  I’m referring to the same chart of my 64 ancestors for this exercise as well, since I’ve already done a great deal of the work.  Let’s see how reality stacks up to the 23andMe timeline.

On the chart below, I’ve shown the geographic category, the dates from the 23andMe timeline reflecting my most recent ancestor’s birth, my most recent ancestor from that location, and the accuracy of the 23andMe estimate.

Category 23andMe Dates My Most Recent Ancestor Birth 23andMe Accuracy
British and Irish 1900-1930 1759 – Henry Bolton Utter hogwash
French and German 1840-1900 1854 – Hiram Ferverda Close
Scandinavian 1750-1840 No ancestor More hogwash
Eastern European 1720-1810 No ancestor Hogwash
Italian 1690-1810 No ancestor Hogwash
Native American 1690-1790 Uncertain, mother’s side – early 1600s, father’s side – unknown Not verifiable, reasonable

The part of this equation that I find extremely upsetting is the sheer magnitude of how misleading the 23andMe timeline is.  It’s not just wrong, it’s horribly deceptive – massively inaccurate by any measure possible.

Here’s what the 23andMe white paper says about this new tool:

“Admixture date estimator is a 23andMe feature that enables customers to find out, for each of the ancestries they carry, when they may have had an ancestor in their genealogy who was likely to be a non-admixed representative of that population.”

I’m a seasoned genealogist, so I know unquestionably that my 23andMe Timeline is not only wrong, it’s entirely hogwash in 4 of 6 categories. A 5th category is close, and the 6th is reasonable but not verifiable.

The disparity of the British/Irish dates between 1759 when Henry Bolton was born in London and 1900-1930 is evident without discussion.  I do have a lot of British Isles ancestry, but it’s a result of many ancestors, not one and no one born there even remotely recently, let alone within the past generation. For me, someone born between 1900-1930 would be a parent.

Looking back at the Calculating Ethnicity Percentages article, you’ll note that I don’t have any Scandinavian ancestors in any known generation.  The 8% that 23andMe estimates, if accurate, equates to between a great-grandparent at 12.5% and a great-great-grandparent at 6.25%.  If the Scandinavian was one person, they would have been born in that timeframe (1750-1840) – but there was no one person.  The Scandinavian has to be very ancestral, meaning ancient Vikings or Normans or found in the Dutch population which is often found to be “Scandinavian.”  Regardless, there are no Scandinavian ancestors in my pedigree which reaches back well before 1750-1840.  Neither are there any Eastern European or Italian ancestors. None. Nada. Zip.

Perplexingly, it’s that unverifiable category, Native American, that so many people are desperately researching and scavenge for any possible clue.  There is no way to determine whether that category is right or wrong, so they will assume that it is accurate.  However, judging from the track record of the other categories – it’s more likely to be incorrect than correct.  Resorting to history alone, we know that the first European settlers arrived in North America in the early 1600s and my Native heritage is small, based on both my genealogy and my DNA, so a range of 1690-1790 would be a “good guess” with no genetic information at all.  My proven Native ancestors were born in the early/mid 1600s, but I have not successfully identified all of my Native ancestors, in particular the one(s) from my father’s side and when they were fully Native.

For a beginner or someone with unknown parentage, this timeline is horribly, horribly midleading and will cause novices to make massively incorrect assumptions. A British or Irish ancestor born between 1900-1930? Seriously?  This timeline combined with the 39.8% British/Irish suggests a parent.  Think about what an adoptee would take away from this timeline – and how their research could be derailed as a result.  Without parents available to DNA test, this erroneous information could make someone question their parentage.

Here’s an example of just how misleading this information can be.

In my case, I know beyond a doubt that my mother was primarily descended from German and Dutch recent immigrants with some French and Native American (Acadian) thrown in for good measure.  So, based on this timeline stating that a British/Irish ancestor was born in the British Isles between 1900 and 1930, combined with my ethnicity results of 39.8% British and Irish, OH MY GOD, my father is not who I thought, but is some British/Irish man.  MOTHER………………

All I can say is thank goodness I’ve done the DNA testing that I have and I know beyond a shadow of a doubt that my father is my biological father and not some British man, despite what this timeline suggests.  If I had no other evidence – I certainly would believe that my father was a British man, and I’d be GRATEFUL for this (highly erroneous) information.

On the flip side, many people will utilize this tool to “confirm” suspicions about genealogy.  I’ve already seen this happening on various lists.  With 4 of 6 categories being entirely, provably, incorrect, not to mention that the first category reflecting my largest percentage of ethnicity is so dramatically wrong, one can have absolutely no confidence in any of the other categories. I can’t and neither can anyone else.

I’m not alone either.  This, from another long-time genealogist: “I am dumbstruck.  It couldn’t be further from the truth for me.  I am very colonial on both sides.  Most recent immigrant ancestor was 1797.”  And from another: “No.  Just no.  Not accurate.”

So let me say this again.

You. Can. Have. No. Confidence.

If you already know your genealogy, then you don’t need this tool.  If you don’t know your genealogy, then you’re going to be misled by this tool.

It’s very clear that anyone with many ancestors that came from a particular population, but that haven’t been born in that location in many generations will have an incorrect timeline.  This would include just about everyone with colonial American roots.  The amount of a particular ethnicity does NOT equate to aggregating that ethnicity into a single ancestor and equating the amount of ethnicity to a recent birth in that location.  This logic is predicated on a whole lot of assumptions stacked on top of each other, like a house of cards. And we all know about assume.

23andMe, you should be ashamed of yourself for perpetrating genetic hogwash on your unsuspecting, believing and often vulnerable customers.  Climb down out of your ivory tower, buy a vowel and get a clue.  Statistics in an academic environment and reality sometimes just don’t mesh – and you, 23andMe, have the wherewithal and the customer base to discern the difference. You are supposed to be a science company.  You have no excuse.

I understand the desire to provide new tools to customers, but inaccurate simplicity is never a priority over realism.

I hope 23andMe will have the decency to remove this new deceptive and misleading “feature” that should never have made it past “proof of concept” in the first place.

thumbs-down

Concepts – Calculating Ethnicity Percentages

There has been a lot of discussion about ethnicity percentages within the genetic genealogy community recently, probably because of the number of people who have recently purchased DNA tests to discover “who they are.”

Testers want to know specifically if ethnicity percentages are right or wrong, and what those percentages should be. The next question, of course, is which vendor is the most accurate.

Up front, let me say that “your mileage may vary.” The vendor that is the most accurate for my German ancestry may not be the same vendor that is the most accurate for the British Isles or Native American. The vendor that is the most accurate overall for me may not be the most accurate for you. And the vendor that is the most accurate for me today, may no longer be the most accurate when another vendor upgrades their software tomorrow. There is no universal “most accurate.”

But then again, how does one judge “most accurate?” Is it just a feeling, or based on your preconceived idea of your ethnicity? Is it based on the results of one particular ethnicity, or something else?

As a genealogist, you have a very powerful tool to use to figure out the percentages that your ethnicity SHOULD BE. You don’t have to rely totally on any vendor. What is that tool? Your genealogy research!

I’d like to walk you through the process of determining what your own ethnicity percentages should be, or at least should be close to, barring any surprises.

By surprises, in this case, we’re assuming that all 64 of your GGGG-grandparents really ARE your GGGG-grandparents, or at least haven’t been proven otherwise. Even if one or two aren’t, that really only affects your results by 1.56% each. In the greater scheme of things, that’s trivial unless it’s that minority ancestor you’re desperately seeking.

A Little Math

First, let’s do a little very basic math. I promise, just a little. And it really is easy. In fact, I’ll just do it for you!

You have 64 great-great-great-great-grandparents.

Generation # You Have Who Approximate Percentage of Their DNA That You Have Today
1 You 100%
1 2 Parents 50%
2 4 Grandparents 25%
3 8 Great-grandparents 12.5%
4 16 Great-great-grandparents 6.25%
5 32 Great-great-great-grandparents 3.12%
6 64 Great-great-great-great-grandparents 1.56%

Each of those GGGG-grandparents contributed 1.56% of your DNA, roughly.

Why 1.56%?

Because 100% of your DNA divided by 64 GGGG-grandparents equals 1.56% of each of those GGGG-grandparents. That means you have roughly 1.56% of each of those GGGG-grandparents running in your veins.

OK, but why “roughly?”

We all know that we inherit 50% of each of our parents’ DNA.

So that means we receive half of the DNA of each ancestor that each parent received, right?

Well, um…no, not exactly.

Ancestral DNA isn’t divided exactly in half, by the “one for you and one for me” methodology. In fact, DNA is inherited in chunks, and often you receive all of a chunk of DNA from that parent, or none of it. Seldom do you receive exactly half of a chunk, or ancestral segment – but half is the AVERAGE.

Because we can’t tell exactly how much of any ancestor’s DNA we actually do receive, we have to use the average number, knowing full well we could have more than our 1.56% allocation of that particular ancestor’s DNA, or none that is discernable at current testing thresholds.

Furthermore, if that 1.56% is our elusive Native ancestor, but current technology can’t identify that ancestor’s DNA as Native, then our Native heritage melds into another category. That ancestor is still there, but we just can’t “see” them today.

So, the best we can do is to use the 1.56% number and know that it’s close. In other words, you’re not going to find that you carry 25% of a particular ancestor’s DNA that you’re supposed to carry 1.56% for. But you might have 3%, half of a percent, or none.

Your Pedigree Chart

To calculate your expected ethnicity percentages, you’ll want to work with a pedigree chart showing your 64 GGGG-grandparents. If you haven’t identified all 64 of your GGGG-grandparents – that’s alright – we can accommodate that. Work with what you do have – but accuracy about the ancestors you have identified is important.

I use RootsMagic, and in the RootsMagic software, I can display all 64 GGGG-grandparents by selecting all 4 of my grandparents one at a time.

In the first screen, below, my paternal grandfather is blue and my 16 GGGG-grandparents that are his ancestors are showing to the far right.  Please note that you can click on any of the images to enlarge.

ethnicity-pedigree

Next, my paternal grandmother

ethnicity-pedigree-1

Next, my maternal grandmother.

ethnicity-pedigree-2

And finally, my maternal grandfather.

ethnicity-pedigre-3

These displays are what you will work from to create your ethnicity table or chart.

Your Ethnicity Table

I simply displayed each of these 16 GGGG-grandparents and completed the following grid. I used a spreadsheet, but you can use a table or simply do this on a tablet of paper. Technology not required.

You’ll want 5 columns, as shown below.

  • Number 1-64, to make sure you don’t omit anyone
  • Name
  • Birth Location
  • 1.56% Source – meaning where in the world did the 1.56% of the DNA you received from them come from? This may not be the same as their birth location. For example an Irish man born in Virginia counts as an Irish man.
  • Ancestry – meaning if you don’t know positively where that ancestor is from, what do you know about them? For example, you might know that their father was German, but uncertain about the mother’s nationality.

My ethnicity table is shown below.

ethnicity-table

In some cases, I had to make decisions.

For example, I know that Daniel Miller’s father was a German immigrant, documented and proven. The family did not speak English. They were Brethren, a German religious sect that intermarried with other Brethren.  Marriage outside the church meant dismissal – so your children would not have been Brethren. Therefore, it would be extremely unlikely, based on both the language barrier and the Brethren religious customs for Daniel’s mother, Magdalena, to be anything other than German – plus, their children were Brethren..

We know that most people married people within their own group – partly because that is who they were exposed to, but also based on cultural norms and pressures. When it comes to immigrants and language, you married someone you could communicate with.

Filling in blanks another way, a local German man was likely the father of Eva Barbara Haering’s illegitmate child, born to Eva Barbara in her home village in Germany.

Obviously, there were exceptions, but they were just that, the exception. You’ll have to evaluate each of your 64 GGGG-grandparents individually.

Calculating Percentages

Next, we’re going to group locations together.

For example, I had a total of one plus that was British Isles. Three and a half, plus, that were Scottish. Nine and a half that were Dutch.

ethnicity-summary

You can’t do anything with the “plus” designation, but you can multiply by everything else.

So, for Scottish, 3 and a half (3.5) times 1.56% equals 5.46% total Scottish DNA. Follow this same procedure for every category you’re showing.

Do the same for “uncertain.”

Incorporating History

In my case, because all of my uncertain lines are on my father’s colonial side, and I do know locations and something about their spouses and/or the population found in the areas where each ancestor is located, I am making an “educated speculation” that these individuals are from the British Isles. These families didn’t speak German, or French, or have French or German, Dutch or Scandinavian surnames. People married others like themselves, in their communities and churches.

I want to be very clear about this. It’s not a SWAG (serious wild-a** guess), it’s educated speculation based on the history I do know.

I would suggest that there is a difference between “uncertain” and “unknown origin.” Unknown origin connotates that there is some evidence that the individual is NOT from the same background as their spouse, or they are from a highly mixed region, but we don’t know.

In my case, this leaves a total of 2 and a half that are of unknown origin, based on the other “half” that isn’t known of some lineages. For example, I know there are other Native lines and at least one African line, but I don’t know what percentage of which ancestor how far back. I can’t pinpoint the exact generation in which that lineage was “full” and not admixed.

I have multiple Native lines in my mother’s side in the Acadian population, but they are further back than 6 generations and the population is endogamous – so those ancestors sometimes appear more than once and in multiple Acadian lines – meaning I probably carry more of their DNA than I otherwise would. These situations are difficult to calculate mathematically, so just keep them in mind.

Given the circumstances based on what I do know, the 3.9% unknown origin is probably about right, and in this case, the unknown origin is likely at least part Native and/or African and probably some of each.

ethnicity-summary-2

The Testing Companies

It’s very difficult to compare apples to apples between testing companies, because they display and calculate ethnicity categories differently.

For example, Family Tree DNA’s regions are fairly succinct, with some overlap between regions, shown below.

ethnicity-ftdna-map

Some of Ancestry’s regions overlap by almost 100%, meaning that any area in a region could actually be a part of another region.

ethnicity-ancestry-map-2

For example look at the United Kingdom and Ireland. The United Kingdom region overlaps significantly into Europe.

ethnicity-ancestry-map

Here’s the Great Britain region close up, below, which is shown differently from the map above. The Great Britain region actually overlaps almost the entire western half of Europe.

ethnicity-ancestry-great-britain

That’s called hedging your bets, or maybe it’s simply the nature of ethnicity. Granted, the overlaps are a methodology for the vendor not to be “wrong,” but people and populations did and do migrate, and the British Isles was somewhat of a destination location.

This Germanic Tribes map, also from Ancestry’s Great Britain section, illustrates why ethnicity calculations are so difficult, especially in Europe and the British Isles.

ethnicity-invaders

Invaders and migrating groups brought their DNA.  Even if the invaders eventually left, their DNA often became resident in the host population.

The 23andMe map, below, is less detailed in terms of viewing how regions overlap.

ethnicity-23andme-map

The Genographic project breaks ethnicity down into 9 world regions which they indicate reflect both recent influences and ancient genetics dating from 500 to 10,000 years ago. I fall into 3 regions, shown by the shadowy Circles on the map, below.

ethnicity-geno-map-2

The following explanation is provided by the Genographic Project for how they calculate and explain the various regions, based on early European history.

ethnicity-geno-regions

Let’s look at how the vendors divide ethnicity and see what kind of comparisons we can make utilizing the ethnicity table we created that represents our known genealogy.

Family Tree DNA

MyOrigins results at Family Tree DNA show my ethnicity as:

ethnicity-ftdna-percents

I’ve reworked my ethnicity totals format to accommodate the vendor regions, creating the Ethnicity Totals Table, below. The “Genealogy %” column is the expected percentage based on my genealogy calculations. I have kept the “British Isles Inferred” percentage separate since it is the most speculative.

ethnicity-ftdna-table

I grouped the regions so that we can obtain a somewhat apples-to-apples comparison between vendor results, although that is clearly challenging based on the different vendor interpretations of the various regions.

Note the Scandinavian, which could potentially be a Viking remnant, but there would have had to be a whole boatload of Vikings, pardon the pun, or Viking is deeply inbedded in several population groups.

Ancestry

Ancestry reports my ethnicity as:

ethnicity-ancestry-amounts

Ancestry introduces Italy and Greece, which is news to me. However, if you remember, Ancestry’s Great Britain ethnicity circle reaches all the way down to include the top of Italy.

ethnicity-ancestry-table

Of all my expected genealogy regions, the most definitive are my Dutch, French and German. Many are recent immigrants from my mother’s side, removing any ambiguity about where they came from. There is very little speculation in this group, with the exception of one illegitimate German birth and two inferred German mothers.

23andMe

23andMe allows customers to change their ethnicity view along a range from speculative to conservative.

ethnicity-23andme-levels

Generally, genealogists utilize the speculative view, which provides the greatest regional variety and breakdown. The conservative view, in general, simply rolls the detail into larger regions and assigns a higher percentage to unknown.

I am showing the speculative view, below.

ethnicity-23andme-amounts

Adding the 23andMe column to my Ethnicity Totals Table, we show the following.

ethnicity-23andme-table-2

Genographic Project 2.0

I also tested through the Genographic project. Their results are much more general in nature.

ethnicity-geno-amounts

The Genographic Project results do not fit well with the others in terms of categorization. In order to include the Genographic ethnicity numbers, I’ve had to add the totals for several of the other groups together, in the gray bands below.

ethnicity-geno-table-2

Genographic Project results are the least like the others, and the most difficult to quantify relative to expected amounts of genealogy. Genealogically, they are certainly the least useful, although genealogy is not and never has been the Genographic focus.

I initially omitted this test from this article, but decided to include it for general interest. These four tests clearly illustrate the wide spectrum of results that a consumer can expect to receive relative to ethnicity.

What’s the Point?

Are you looking at the range of my expected ethnicity versus my ethnicity estimates from the these four entities and asking yourself, “what’s the point?”

That IS the point. These are all proprietary estimates for the same person – and look at the differences – especially compared to what we do know about my genealogy.

This exercise demonstrates how widely estimates can vary when compared against a relatively solid genealogy, especially on my mother’s side – and against other vendors. Not everyone has the benefit of having worked on their genealogy as long as I have. And no, in case you’re wondering, the genealogy is not wrong. Where there is doubt, I have reflected that in my expected ethnicity.

Here are the points I’d like to make about ethnicity estimates.

  • Ethnicity estimates are interesting and alluring.
  • Ethnicity estimates are highly entertaining.
  • Don’t marry them. They’re not dependable.
  • Create and utilize your ethnicity chart based on your known, proven genealogy which will provide a compass for unknown genealogy. For example, my German and Dutch lines are proven unquestionably, which means those percentages are firm and should match up relatively well to vendor ethnicity estimates for those regions.
  • Take all ethnicity estimates with a grain of salt.
  • Sometimes the shaker of salt.
  • Sometimes the entire lick of salt.
  • Ethnicity estimates make great cocktail party conversation.
  • If the results don’t make sense based on your known genealogical percentages, especially if your genealogy is well-researched and documented, understand the possibilities of why and when a healthy dose of skepticism is prudent. For example, if your DNA from a particular region exceeds the total of both of your parents for that region, something is amiss someplace – which is NOT to suggest that you are not your parents’ child.  If you’re not the child of one or both parents, assuming they have DNA tested, you won’t need ethnicity results to prove or even suggest that.
  • Ethnicity estimates are not facts beyond very high percentages, 25% and above. At that level, the ethnicity does exist, but the percentage may be in error.
  • Ethnicity estimates are generally accurate to the continent level, although not always at low levels. Note weasel word, “generally.”
  • We should all enjoy the results and utilize these estimates for their hints and clues.  For example, if you are an adoptee and you are 25% African, it’s likely that one of your grandparents was Africa, or two of your grandparents were roughly half African, or all four of your grandparents were one-fourth African.  Hints and clues, not gospel and not cast in concrete. Maybe cast in warm Jello.
  • Ethnicity estimates showing larger percentages probably hold a pearl of truth, but how big the pearl and the quality of the pearl is open for debate. The size and value of the pearl is directly related to the size of the percentage and the reference populations.
  • Unexpected results are perplexing. In the case of my unknown 8% to 12% Scandinavian – the Vikings may be to blame, or the reference populations, which are current populations, not historical populations – or some of each. My Scandinavian amounts translate into between 5 and 8 of my GGGG-grandparents being fully Scandinavian – and that’s extremely unlikely in the middle of Virginia in the 1700s.
  • There can be fairly large slices of completely unexplained ethnicity. For example, Scandinavia at 8-12% and even more perplexing, Italy and Greece. All I can say is that there must have been an awful lot of Vikings buried in the DNA of those other populations. But enough to aggregate, cumulatively, to between a great-grandparent at 12.5% and a great-great-grandparent at 6.25%? I’m not convinced. However, all three vendors found some Scandinavian – so something is afoot. Did they all use the same reference population data for Scandinavian? For the time being, the Scandinavian results remain a mystery.
  • There is no way to tell what is real and what is not. Meaning, do I really have some ancient Italian/Greek and more recent Scandinavian, or is this deep ancestry or a reference population issue? And can the lack of my proven Native and African ancestry be attributed to the same?
  • Proven ancestors beyond 6 generations, meaning Native lineages, disappear while undocumentable and tenuous ancestors beyond 6 generations appear – apparently, en masse. In my case, kind of like a naughty Scandinavian ancestral flash mob, taunting and tormenting me. Who are those people??? Are they real?
  • If the known/proven ethnicity percentages from Germany, Netherlands and France can be highly erroneous, what does that imply about the rest of the results? Especially within Europe? The accuracy issue is especially pronounced looking at the wide ranges of British Isles between vendors, versus my expected percentage, which is even higher, although the inferred British Isles could be partly erroneous – but not on this magnitude. Apparently part of by British Isles ancestry is being categorized as either or both Scandinavian or European.
  • Conversely, these estimates can and do miss positively genealogically proven minority ethnicity. By minority, I mean minority to the tester. In my case, African and Native that is proven in multiple lines – and not just by paper genealogy, but by Y and mtDNA haplogroups as well.
  • Vendors’ products and their estimates will change with time as this field matures and reference populations improve.
  • Some results may reflect the ancient history of the entire population, as indicated by the Genographic Project. In other words, if the entire German population is 30% Mediterranean, then your ancestors who descend from that population can be expected to be 30% Mediterranean too. Except I don’t show enough Mediterranean ancestry to be 30% of my German DNA, which would be about 8% – at least not as reported by any vendor other than the Genographic Project.
  • Not all vendors display below 1% where traces of minority admixture are sometimes found. If it’s hard to tell if 8-12% Scandinavian is real, it’s almost impossible to tell whether less than 1% of anything is real.  Having said that, I’d still like to see my trace amounts, especially at a continental level which tends to be more reliable, given that is where both my Native and African are found.
  • If the reason my Native and African ancestors aren’t showing is because their DNA was not passed on in subsequent generations, causing their DNA to effectively “wash out,” why didn’t that happen to Scandinavian?
  • Ethnicity estimates can never disprove that an ancestor a few generations back was or was not any particular ethnicity. (However, Y and mitochondrial DNA testing can.)
  • Absence of evidence is not evidence of absence, except in very recent generations – like 2 (grandparents at 25%), maybe 3 generations (great-grandparents at 12.5%).
  • Continental level estimates above 10-12 percent can probably be relied upon to suggest that the particular continental level ethnicity is present, but the percentage may not be accurate. Note the weasel wording here – “probably” – it’s here on purpose. Refer to Scandinavia, above – although that’s regional, not continental, but it’s a great example. My proven Native/African is nearly elusive and my mystery Scandinavian/Greek/Italian is present in far greater percentages than it should be, based upon proven genealogy.
  • Vendors, all vendors, struggle to separate ethnicity regions within continents, in particular, within Europe.
  • Don’t take your ethnicity results too seriously and don’t be trading in your lederhosen for kilts, or vice versa – especially not based on intra-continental results.
  • Don’t change your perception of who you are based on current ethnicity tests. Otherwise you’re going to feel like a chameleon if you test at multiple vendors.
  • Ethnicity estimates are not a short cut to or a replacement for discovering who you are based on sound genealogical research.
  • No vendor, NOT ANY VENDOR, can identify your Native American tribe. If they say or imply they can, RUN, with your money. Native DNA is more alike than different. Just because a vendor compares you to an individual from a particular tribe, and part of your DNA matches, does NOT mean your ancestors were members of or affiliated with that tribe. These three major vendors plus the Genographic Project don’t try to pull any of those shenanigans, but others do.
  • Genetic genealogy and specifically, ethnicity, is still a new field, a frontier.
  • Ethnicity estimates are not yet a mature technology as is aptly illustrated by the differences between vendors.
  • Ethnicity estimates are that. ESTIMATES.

If you like to learn more about ethnicity estimates and how they are calculated, you might want to read this article, Ethnicity Testing, A Conundrum.

Summary

This information is NOT a criticism of the vendors. Instead, this is a cautionary tale about correctly setting expectations for consumers who want to understand and interpret their results – and about how to use your own genealogy research to do so.

Not a day passes that I don’t receive very specific questions about the interpretation of ethnicity estimates. People want to know why their results are not what they expected, or why they have more of a particular geographic region listed than their two parents combined. Great questions!

This phenomenon is only going to increase with the popularity of DNA testing and the number of people who test to discover their identity as a result of highly visible ad campaigns.

So let me be very clear. No one can provide a specific interpretation. All we can do is explain how ethnicity estimates work – and that these results are estimates created utilizing different reference populations and proprietary software by each vendor.

Whether the results match each other or customer expectations, or not, these vendors are legitimate, as are the GedMatch ethnicity tools. Other vendors may be less so, and some are outright unethical, looking to exploit the unwary consumer, especially those looking for Native American heritage. If you’re interested in how to tell the difference between legitimate genetic information and a company utilizing pseudo-genetics to part you from your money, click here for a lecture by Dr. Jennifer Raff, especially about minutes 48-50.

Buyer beware, both in terms of purchasing DNA testing for ethnicity purposes to discover “who you are” and when internalizing and interpreting results.

The science just isn’t there yet for answers at the level most people seek.

My advice, in a nutshell: Stay with legitimate vendors. Enjoy your ethnicity results, but don’t take them too seriously without corroborating traditional genealogical evidence!

2016 Genetic Genealogy Retrospective

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

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

Vendors

Family Tree DNA

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

Both Buckets

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

Phased FF2

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

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

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

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

2016-ancient-origins

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

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

Ancestry

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

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

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

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

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

ancestry-common-ancestors

23andMe

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

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

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

New Kids on the Block

MyHeritage

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

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

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

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

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

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

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

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

2016-myheritage-matches

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

2016-myheritage-second-match

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

2016-myheritage-at-ancestry

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

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

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

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

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

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

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

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

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

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

Living DNA

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

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

2016-living-dna

Genos

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

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

Third Parties

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

I have covered these extensively over the years.

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

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

Roberta's ancestor map2

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

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

ADSA Crumley cluster

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

2016-gedmatch-triangulation-groups

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

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

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

Others offer unique tools that are a bit different.

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

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

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

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

2016-wikitree-peter-roberts

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

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

What Defined 2016

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

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

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

The answer is simple…

Ethnicity.

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

Ethnicity

“Kim just wanted to know who she was.”

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

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

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

ESTIMATES.

Nothing more.

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

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

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

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

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

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

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

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

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

Education

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

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

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

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

The Concepts Series

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical By Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Y DNA Matching and Connecting With Your Paternal Ancestor

Concepts – Downloading Autosomal Data From Family Tree DNA

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

Concepts – Genetic Distance

Concepts – Relationship Predictions

Concepts – Match Groups and Triangulation

Concepts – Sorting Spreadsheets for Autosomal DNA

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

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

Concepts – Undocumented Adoptions Versus Untested Y Lines

My blog isn’t the only resource of course.

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

Other blogs I highly recommend include:

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

And of course, the ISOGG Wiki.

Online Conference Resources

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

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

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

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

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

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

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

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

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

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

Summary

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

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

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

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

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

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

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

Happy New Year!!!

23andMe’s New Ancestry Composition (Ethnicity) Chromosome Segments

I was excited to see 23andMe’s latest feature that provides customers with Ancestry Composition (ethnicity) chromosome segment information by location.  This means I can compare my triangulation groups to these segments and potentially identify which ancestor’s DNA that I inherited carry which ethnicity – right?? Another potential way to help discern whether I should ask Santa for lederhosen or a kilt?

Not so fast…

Theoretically yes, but as it turns out, after working with the results, this tool doesn’t fulfill it’s potential and has some very significant issues, or maybe this new tool just unveiled underlying issues.

Rats, I guess Santa is off the hook.

Let’s take a look and step through the process.

Ancestry Composition Chromosome Painting

To see your Ancestry Composition ethnicity chromosome painting, sign into 23andMe, then go to the Reports tab at the top of your page and click on Ancestry. Please note that you can click on any of the graphics in this article to enlarge.

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Then click on Ancestry Composition, which shows you the following:

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Scrolling downs shows you your chromosomes, painted with your ethnicity. This isn’t new and it’s a great visual.

You may note that 23andMe paints both “sides” of each chromosome separately, the side you received from your mother and the side you received from your father. However, there is no way to determine which is which, and they are not necessarily the same side on each chromosome.

If one or both of your parents tested at 23andMe, you can connect your parents to your results and you can then see which ethnicity you received from which parent.

Let’s work through an example.

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This person, we’ll call her Jasmine, received two segments of Native ancestry, one on chromsome 1 and one on chromosome 2, both on the first (top) strands or copies. She also received one segment of African on DNA strand (copy) 1 of chromsome 7.

Caveat

Words of warning.

JUST BECAUSE THESE ETNICITIES APPEAR ON THE SAME STRANDS OF DIFFERENT CHROMOSOMES, STRAND ONE IN THIS CASE, DOES NOT MEAN THEY ARE INHERITED FROM THE SAME PARENT.  

Each chromosome recombines separately and without a parent to compare to, there is no way to know which strand is mother’s or father’s on any chromsome. And figuring out which strand is which for one chromsome does NOT mean it’s the same for other chromsomes.

In fact, Jasmine’s mother has tested, and she has NO African on chromosome 7. However, Jasmine and her mother both have Native American on chromosomes 1 and 2 in the same location, so we know absolutely that Jasmine’s strand 1 on chromosome 7 is not from the same parent as strand 1 on chromosome 1 and 2, because Jasmine’s mother doesn’t have any African DNA in that location.

If you’re a seasoned 23andMe user, and you’re saying to yourself, “That’s not right, the chromosome sides should be aligned if a parent tests.”  You’re right, at least that’s what we’ve all thought.  Keep reading.

Let’s dig a bit further.

Connecting Up

23and Me encourages everyone to connect their parents, if your parents have tested.

Jasmine’s mother has tested and is connected to Jasmine at 23andMe.

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Even though the button says “Connect Mother,” which makes it appear that Jasmine’s mother isn’t connected, she is. Clicking on Jasmine’s “Connect Mother” button shows the following:

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Furthermore, if the parent isn’t connected, you don’t see any parental side ethnicity breakdown – and we clearly see those results for Jasmine.  Below is an example of the same page of someone whose parents aren’t connected – and you can see the verbiage at the bottom saying that a parent must be connected to see how much ancestry composition was inherited from each parent.

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If a child is connected to at least one parent, 23andMe, based on that parent’s test, tells the child which sides they inherited which pieces of their ethnicity from, shown for Jasmine, below.

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In this case, the mother is connected to Jasmine and the father’s ethnicity results are imputed by subtracting the results where Jasmine matches her mother. The balance of Jasmine’s DNA ethnicity results that don’t match her mother in that location are clearly from her father.

23andMe may sort the results into the correct buckets, but they do not correctly rearrange the chromosome “copies” or “sides” on the chromosome browser display based on the parents’ DNA, as seen from the African example on chromosome 7. Either that, or the ethnicity phasing is inaccurate, or both.

You can see that 23andMe tells Jasmine that all of her Native is from her mother’s side, which is correct.

23andMe tells Jasmine that part of her North African and Sub-Saharan African are from her mother, but some North African is also from her father. You can see Jasmine’s African on her chromosome 7, below.

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There is no African on Jasmine’s mother’s chromosome 7, below.

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So if African exists on chromosome 7, it MUST come from Jasmine’s father’s side. Therefore, side one of chromosome 7 cannot be Jasmine’s mother’s side, because that’s where Jasmine’s African resides.

This indictes that either the results are incorrect, or the “sides” showing have not been corrected or realigned by 23andMe after parental ethnicity phasing, or both.

Here’s another example. Jasmine shows Middle East and North Africa on chromosomes 12 and 13 on sides one and two, respectively.

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Jasmine’s mother shows Middle East and North Africa on chromosome 14, only, with none showing on chromosome 12 or 13.

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Yet, 23andMe shows Jasmine receiving Middle East and North African DNA from her mother.

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Jasmine is also shown as receiving Sub-Saharan African and West African from her mother, but Jasmine’s mother has no Sub-Saharan or West African, at all.

Interestingly, when you highlight both West African and Sub-Saharan African, shown below, it highlights the same segment of Jasmine’s DNA, so apparently these are not different categories, but subsets of each other, at least in this case, and reflect the same segment.

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Jasmine’s mother shows this region of chromosome 7 to be “European” with no further breakdown.

Clearly Jasmine’s sides 1 and 2 have not been consistently assigned to her mother, because Jasmine’ African shows on both sides 1 and 2 of chromosomes 12 and 13 and Jasmine’s mother has no African on either on those chromosomes – so those segments should be assigned consistently to Jasmine’s father’s side, which, based on Jasmine’s match to her mother on chromosome 1, side 1 – Jasmine’s father’s “copy” should be Jasmine’s side 2.  This tool is not functioning correctly.

Jasmine’s father is deceased, so there is no way to test him.

The information provided by 23and Me contradicts itself.

Either the ethnicity assignment itself or the parental ethnicity phasing is inaccurate, or both. Additionally, we now know that the chromosome “sides,” meaning “copies” are inaccurately displayed, even when one parent’s DNA is available and connected, and the sides could and should be portrayed accurately.

This discrepancy has to be evident to 23andMe, if they are checking for consistency in assigning child to parent segments.  You can’t assign a child’s segment to a parent who doesn’t carry any of that ethnicity in a common location.  That situation should result in a big red neon sign flashing “STOP” in quality assurance.  Inaccurate results should never be delivered to testers, especially when there are easy ways to determine that something isn’t right.

The New Feature – Ethnicity Segments

Like I said, I was initially quite excited about this new feature, at least until I did the analysis. Now, I’m not excited at all, because if the results are flawed, so is the underlying segment data.

My original intention was to download the ethnicity segment information into my master spreadsheet so that I could potentially match the ethnicity segments against ancestors when I’ve identified an ancestral segment as belonging to a particular ancestral line.

This would have been an absolutely wonderful benefit.

Let’s walk though these steps so you can find your results and do your own analysis.

When you are on the Ancestry Composition page, you will be, by default, on the Summary page.

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Click on the Scientific Details tab, at the top, and scroll down to the bottom of the page where you will see the following:

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You will be able to select a confidence level, ranging from 50% to 90%, where 50% is speculative and 90% is the highest confidence. Hint – at the highest confidence level, many of the areas broken out in the speculative level are rolled up into general regions, like “European.”  Default is 50%.

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Click on download raw data and you can then open or save a .csv file. I suggest then saving that file as an Excel file so you can do some comparisons without losing features like color.

In my case, I saved a 50% confidence file and a 90% confidence file to compare to each other.

I began my analysis with both strands of chromosome 1:

Strand 1 was easy.  (Click on graphic to enlarge.)

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At the 50% confidence level, on the left, three segments are identified, but when you really look at the start and end positions, rows one and two overlap entirely. Looking back at the chromosome browser painting, this looks to be because that segment will show up in both of those categories, so this isn’t an either-or situation. Row 3 shows Scandinavian beginning at 79,380,466 and continuing through 230,560,900, which is a partial embedded segment of row 2.

At the 90% confidence level, on the right, above, this entire segment, meaning all of chromosome 1 on side 1, is simply called European.

You can see how this might get complex very quickly when trying to utilize this information in a Master DNA Spreadsheet with your matches, especially since individual segments can have 2 or 3 different labels.  However, I’d love to know where my mystery Scandinavian is coming from – assuming it’s real.

Now, let’s look at strand 2 of chromosome one. It’s a little more complex.

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I’ve tried to color code identical, or partially-overlapping segments.

The red, green and apricot segments overlap or partially overlap at the 50% level, on the left, indicating that they show up in different categories.

The red segments are partially the same, with some overlapping, but are grouped differently within Europe.

The green Native/East Asian segments at the 90% level are interrupted by the blue unassigned segments in the middle of the green segments, while at the 50% confidence level, they remain contiguous.

All of the start and end segments change, even if the categories stay the same or generally the same. The grey example at the bottom is the easiest to see – the category changes to the more general “European” at the 90% level and the start segment is slightly different.

Jasmine and Her Mother

As one last example, let’s look at the segments at the 50% confidence level, which should be the least restrictive, that we were comparing when discussing Jasmine and her mother.

You can see, below, that Jasmine’s Native portion of chromosome 1 and 2 are either equal to or a subset of her mother’s Native portion, so these match accurately and are shown in green.

This tells us that Jasmine’s mother’s side of chromosomes 1 and 2 is Jasmine’s “copy 1” and given that we can identify Jasmine’s mother’s DNA, all of Jasmine’s “copy 1” should now be displayed as her mother’s DNA, but it isn’t.

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On chromosomes 7 and 12, where Jasmine’s copy 1 shows African DNA, her mother has none. All African DNA segments are shown in red, above.

Furthermore, 23andMe attributes at least some portion of Jasmine’s African to Jasmine’s mother, but Jasmine’s mother’s only African DNA appears on chromosome 14, a location where Jasmine has none. There is no common African segment or segments between Jasmine and her mother, in spite of the fact that 23andMe indicates that Jasmine inherited part of her African DNA from her mother.  It’s true that Jasmine and her mother both carry African DNA, but not on any of the same segments, so Jasmine did not inherit her mother’s African DNA.  Jasmine’s African DNA had to have come from her father – and that’s evident if you compare Jasmine and her mother’s segment data.

Where Jasmine has African DNA segments, above, I’ve shown her mother’s corresponding DNA segments on both strands for comparison. I have not colored these segments. Conversely, where Jasmine’s mother has African, on chromosome 14, I have shown Jasmine’s corresponding DNA segments covering that segment.  There are no matches.

Clearly Jasmine did not inherit her African segments from her mother, or the segments have been incorrectly assigned as African or European, or multiple problems exist.

Summary

I initially thought the Ancestry Composition segments were a great addition to the genealogists toolset, but unfortunately, it has proven to be otherwise, highlighting deficiencies in more than one of the following area:

  • Potentially, the ancestry composition ethnicity breakdown itself.  Is the underlying ethnicity assignment incorrect?  In either case, that would not explain the balance of the issues we encountered.
  • The chromosome “sides” or “copy” shown after the parental phasing – in other words, the child’s chromosome copies can be assigned to a particular parent with either or both parents’ DNA. Therefore, after parental phasing, all of the same parent’s DNA should consistently be assigned to either copy 1 or copy 2 for the child on all of their chromosomes.  It isn’t.
  • The child’s ethnicity source (parent) assignment based on the parent’s or parents’ ethnicity assignment(s).  Hence, the African segment assignment issues above.
  • The ethnicity phasing itself.  The assigning of the source of Jasmine’s African DNA to her mother when they share no common African segments.  Clearly this is incorrect, calling into question the validity of the rest of the parental ethnicity phasing.

Unfortunately, we really don’t have adequate tools to determine exactly where the problem or problems lie, but problems clearly do exist. This is very disappointing.

As a result, I won’t be adding this information to my Master DNA spreadsheet, and I’m surely glad I took the time to do the analysis BEFORE I copied the segment data into my spreadsheet.  In my excitement, I almost skipped the analysis step, trusting that 23andMe had this right.

All ethnicity results need to be taken with a large grain of salt, especially at the intra-continent level, because the reference populations and technology just haven’t been perfected.  It’s very difficult to discern between countries and regions of Europe, for example.  I discussed this in the article, “Ethnicity Testing – A Conundrum.”

However, it appears that adding parental phasing on top means that instead of a grain of salt, we’re looking at the entire shaker, at least at 23andMe – even at the continent level – in this case, Africa, which should be easily discernable from European. Parental phasing by its very nature should be able to help refine our results, not make them less reliable.

Is this new segment information just showing us the problems with the original ethnicity information?  I hate to even think about this or ask these difficult questions, but we must, because testers often rely on minority (to them) ethnicity admixture information to help confirm the ethnicity of distant ancestors. Are the display tools or 23andMe’s programs not working correctly, or is there a deeper problem, or both?

I think I just received a big lump of coal, or maybe a chunk of salt, in my stocking for Christmas.

Bah, humbug.