The Genetic Genealogist

Earlier this week, Ancestry.com began releasing raw data to purchasers of the AncestryDNA autosomal DNA product.  Several others have written great articles on AncestryDNA’s new raw data, so I’ll point you to their articles instead of rehashing everything here:

• EDITED (03/24/2013) - Expect a post  on this subject very soon from CeCe Moore at Your Genetic Genealogist!

• “Downloading Ancestry’s Autosomal DNA Raw Data File” by Roberta Estes at DNAeXplained
• “AncestryDNA updates” by Debbie Kennett at Crewys news
• “The raw data at AncestryDNA” by Judy G. Russell at The Legal Genealogist

Within the next few weeks and months, you’ll be able to use the AncestryDNA raw data at places like Family Tree DNA and Gedmatch.com.

But note an issue that I first brought up on a mailing list last Thursday when the announcement came out.  The following language is found on the page after you click on the final download link:

The raw data is subject to the AncestryDNA Terms and Conditions and AncestryDNA Privacy Statement. You must not use the raw data in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions).

Under “Rules of Conduct” in Section 5 of the Terms and Conditions, Ancestry.com states:

In addition, the following policies are part of this Agreement and must be followed anytime you access the AncestryDNA Website:

D. You must not use the information from the AncestryDNA website or DNA tests (including any downloaded raw DNA data) in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions).

These Rules of Conduct are not exclusive. If we believe, in our sole discretion, that you are in breach of this Agreement, are acting inconsistently with the letter or spirit of this Agreement or otherwise interfering with the efficient management or delivery of the AncestryDNA Website, Service or Content, we may limit, suspend or terminate your access to our AncestryDNA Website. In such a case, no portion of your subscription payment will be refunded. Should we decide to suspend or terminate your access for any reason other than your actions or omissions which we believe to be inconsistent with this Agreement we will refund to you any unused portion of your payment, which will be your sole and exclusive remedy upon such a suspension.

Presumably “any anonymous donor” means someone who sent their DNA into AncestryDNA anonymously rather than, for example, a sperm donor, although the language is not clear.

It will be interested to see how this develops.  Stay tuned!

Today, The Genographic Project officially announced the launch of their new Geno 2.0 project, a significant update to the type and quantity of genetic information that will be collected and analyzed by The Genographic Project.  The new project will use an entirely new SNP chip (the GenoChip) designed specifically for Geno 2.0 in order to provide the world’s most detailed information about Y-DNA and mtDNA haplogroups (using SNP information) as well as detailed biogeographical estimates and ancient population (Denisovan and Neanderthal) estimates.

As of today you can pre-order a Geno 2.0 kit, which is expected to ship no later than October 30th (although you can probably expect it earlier than that).

Once again Family Tree DNA will perform all the testing, and The Genographic Project has worked very closely with FTDNA to design, troubleshoot, and use the GenoChip.  FTDNA will perform both the Family Finder and the Geno 2.0 test.

Overview of Geno 2.0

The new Geno 2.0 SNP chip contains roughly the following SNPs:

• ~3,200 mtDNA SNPs
• ~12,000 Y-DNA SNPs
• ~130,000 autosomal and X-chromosomal AIMs (including ~30,000 SNPs from candidate regions of interbreeding between extinct hominins (Denisovan and Neanderthal) and modern humans)

The AIMs (Ancestry Informative Markers) were derived from roughly 450 populations around the globe, including many that are unique to the Genographic project and many that have never been previously searched for AIMs.  The SNPs in regions believed to represent Denisovan and Neanderthal interbreeding will be used to detect and study DNA flow between humans and these extinct populations.

Overview of Results

So what do you get when you order a Geno 2.0 test? Via the new user interface (some of which you can see below), you will receive the following:

• A deep-clade Y-DNA haplogroup assignment;
• A deep-clade mtDNA haplogroup assignment;
• Information about the history and migration of mtDNA and Y-DNA haplogroups;
• A biogeographical (ethnicity) estimate; and
• An ancient population (Denisovan and Neanderthal) estimate.

What Geno 2.0 does NOT do:

• Geno 2.0 does not reveal medically-relevant information (but note that medical/health/trait information can sometimes be revealed unintentionally as new health associations are discovered, for example).  NG went to great lengths to prevent medical/health/trait information from being detected by the Geno 2.0 chip.  For example, the team selected only non-coding SNPs with no known functional association, and filtered all selected SNPs against a 1.5 million SNP database (which they constructed from numerous sources) containing all SNPs known or believed to be associated with disease or health. The team also removed all SNPs with a high association with medically-relevant SNPs (which you might be familiar with b/c of Dr. Watson and his APOE status).

• Identify genetic cousins with autosomal DNA.  The Geno 2.0 product is not intended to identify close genetic relatives based on autosomal DNA, and thus does not have that functionality.  I’m guessing that it will be possible for third-party sites to glean some information about relatedness from the data, however.  Note that relatedness through the Y-DNA or mtDNA based on haplogroup information is a part of the functionality of Geno 2.0, as can be seen in the screenshots below.

FTDNA (Deep Clade Testing; Integration of Genographic Results)

One interesting aspect of the new Geno 2.0 chip is that it will completely replace the deep-clade analysis performed at FTDNA.  With this one test, all SNPs currently analyzed by FTDNA in all of its different deep-clade analyses are analyzed in their entirety.

Another great benefit of the Geno 2.0 test is that Genographic will allow the test-taker to upload/transfer their results back into FTDNA, and neither Genographic or FTDNA will charge a fee for this transfer.  This means that Project Administrators will be able to work within the FTDNA system to analyze results of their project members rather than having to rely on collecting data from project members outside the system (thereby potentially increasing participation and results).

Validation of the GenoChip

The designed GenoChip has undergone significant validation (including the use of  about 400 known Y-DNA and mtDNA samples, and as many as 650 samples from various populations around the world).  Following this validation process (which will continue for at least the foreseeable future), the validated GenoChip SNPs are as follows:

• ~12,000 Y-DNA SNPs
• ~3,200 mtDNA SNPs
• ~130,000 autosomal and X-chromosomal SNPs which include the following SNPs:
• 23,692 Neanderthal
• 1,357 Denisovan
• 12,027 Aboriginal
• 10,159 Eskimo Saqqaq
• 998 Chimpanzee

Downloadable Raw Data: Treasure for Third-Party Analysis and Apps

The test-taker’s raw data will be available for download by the test-taker.  This has happily become the norm for most genetic genealogy companies, and NG will follow suit.  It’s not clear at this point whether that will be an immediate functionality (although I’m guessing it will be), or whether it will be in the near future.

Interestingly, the ability to download raw data opens the door for third-party analysis.  For example, I data from the Geno 2.o chip will lead to significant new mtDNA and Y-DNA discoveries (using the user-fueled Y-Chromosome Genome Comparison project, for example).

Consent

During a presentation put on by Spencer Wells and FTDNA a few weeks ago describing the new Geno 2.0 project, I and several other DNA bloggers were able to ask questions about the new chip and the project.  I and a few others asked questions about consent, which is of course an important aspect of any research project involving human samples.

Specifically, I asked whether all test-takers are automatically participants in the research aspect of the new Geno 2.0 project.  Dr. Wells responded that test-takers must opt into research; they are not automatically research participants.  Accordingly, people who are interested in the new test but have concerns about participating in research can do so.

The Geno 2.o Terms and Conditions are here.

Miscellaneous

A few miscellaneous points:

• As of the recent presentation, Genographic was not yet certain if they will be storing DNA samples after they are tested.  They are considering doing so, but of course there are significant costs associated with long-term storage of tens of thousands of DNA samples.
• Testing will take approximately 4-6 weeks once the system is in full swing (but I’m guessing there might be some delays in the beginning with an initial influx of orders).
• You will eventually be able to order the Geno 2.0 test directly through the FTDNA website.
• Although not completely reflected in the screenshots below, the new project allows for much greater participant involvement and interaction.  For example, test-takers are encouraged to share their stories after receiving their results.

For More Information:

Several other bloggers will be writing about today’s launch, and I will update this post to include links to those reviews.  Also, since I will be taking the Geno 2.0 test in the near future, stay tuned for my review and results.

• National Geographic and Family Tree DNA Announce Geno 2.0 – at Your Genetic Genealogist (CeCe Moore)
• Geno 2.0 launches! – at The Legal Genealogist (Judy G. Russell)
• The Genographic Project: onto the autosome! - at Gene Expression (Razib Khan)
• National Geographic – Geno 2.0 Announcement – The Human Story – at DNAeXplained (Roberta Estes)
• National Geographic Announces New DNA Test - DNA – Genealem’s Genetic Genealogy (Emily Aulicino)

Screenshots

Below are a series of screenshots from the new Geno 2.0 project and test results, provided by National Genographic:

The complete kit (collection is by cheek swab):

Introduction Page:

Overview Page:

An mtDNA haplogroup and heat map (showing modern-day locations and frequencies of the haplogroup):

The “Your Story” main page:

An example of more information at the “Your Story” page:

The “Your Map” page (showing an mtDNA map):

More of the “Your Map” page (showing an mtDNA map):

NOTE: much of this information is based on preliminary information about the GenoChip and Geno 2.0 project.  Accordingly, the information is subject to change. Check The National Genographic website for the latest information.

I’ve received a number of emails and comments (see, e.g., here) complaining about Ancestry.com’s new test, AncestryDNA.  Specifically, several test-takers believe that the Genetic Ethnicity Prediction provided by Ancestry.com does not reflect the numbers that they expected based on their own research.

For example:

“I just got my DNA test results back from Ancestry.com and I am concerned. I was born in England and I have gone back many generations and have found that all my ancestors as far back as the 1600′s in most cases are English.  According to the results I have no British Isles DNA. It states that I have 60% Central Europe, 30% Scandinavian and 7% Southern Europe. I also have 3% unknown. How can this be?”

“Just received my results: 21% Southern European and 79% Central European which doesn’t follow years of work on my family history.”

Do these comments reflect errors in AncestryDNA’s Genetic Ethnicity Prediction, or are there other factors at play?

Caveats

Although I am not privy to the ‘behind-the-scenes’ at Ancestry.com, I don’t believe that there are serious issues with AncestryDNA’s Genetic Ethnicity Prediction.  Ancestry.com’s DNA arm has a solid scientific team and a large and valuable reference database.

Indeed, Ancestry.com is well aware of the limitations and challenges that their Genetic Ethnicity Prediction brings:

We use cutting-edge science as a base for our predictions, but that comes with its own inherent challenges. It’s an emerging field with exciting new discoveries and developments constantly changing the landscape. Right now, your genetic ethnicity may not look quite right, with some ethnicities under or over-represented. As scientists gain a deeper understanding of the data, our prediction models will evolve to provide you with more accurate and relevant information about your family history.

It’s important to understand that biogeographical estimates, which are still relatively new, are notoriously difficult and complicated.  Ten different researchers analyzing the same genome can come up with ten different estimates based on a number of different factors, including their algorithm, the reference populations used for comparison, and many others.

Here are just a few factors that can influence a biogeographical estimate, and any one or more of these may be the reason that your Genetic Ethnicity Prediction does not match estimates you make based on your paper trail.

• Different Reference Populations and Algorithms

As I suggested above, different companies use different reference populations and algorithms to create a biogeographical estimate, which can result in varying estimates.

For example, in my previous review of AncestryDNA’s Genetic Ethnicity Prediction, I compared my genetic ethnicity results from three companies (Ancestry.com, 23andMe, and FTDNA), and found that their results varied considerably.  I’m not surprised by this, but I do expect that over time – as the industry arrives at more standard reference populations and algorithms (which the cheap whole-genome sequencing revolution will enable) – that estimates from different companies will align much more closely.  Be patient and enjoy being a pioneer.

• You Have TWO Family Trees!

Remember that “Everyone Has Two Family Trees – A Genealogical Tree and a Genetic Tree.” Your Genealogical Tree is the tree containing ALL of your ancestors.  However, only a tiny subset of these individuals actually (randomly) contributed DNA to the genome that you walk around with today.  These ancestors are the only individuals in your Genetic Tree.  It has been estimated, for example, that at 10 generations, only about 10-12% of ancestors in your Genealogical Tree are actually in your Genetic Tree!

Accordingly, even if a decent percentage of your ancestors at 10 generations originated in the British Isles, there is possibility that your DNA – and thus your Genetic Ethnicity Prediction – could include very little or absolutely no British Isles ancestry, simply because of the rules of genetics.

Ancestry.com tries to explain this as well (I’m biased, but I think my “Everyone Has Two Trees” explanation is a little clearer; I’ve had great luck explaining this to newbies):

So if you look at your family tree, it may indicate a pedigree-based ethnicity of 30% English, 20% Scandinavian, and 50% Italian (based on birth locations of your great-great-great grandparents). While this is one valid way to look at ethnicity (and in fact has been the only way until recently), DNA analysis can reveal the actual percentage of your DNA that is reflected by these ethnic groups. So your genetic-based ethnicity might reveal you are 40% British Isles, 15% Scandinavian, and 45% Southern European. Both measures are accurate and informative—but they are measuring different things.

• Misleading Labels

Another issue with any biogeographical estimate is the labels used to describe a population.  For example, what does “Scandinavian” or “Central European” really mean?  Does “Scandinavian” mean that great-grandpa must have been a Swede, or does it mean something else?

Ancestry.com defines the “Scandinavian” with the modern day locations of Norway, Sweden, Denmark, but explains in their FAQ that it can mean much, much more:

Ethnic groups moved around. Because people move over time, (and when they do they take their DNA with them), a group may contribute DNA to other groups at different times. So ethnic groups can be defined by time and place—not just location. For example, if you have German or British ancestors in your family tree, it’s a possibility that your genetic ethnicity may be partly Scandinavian. The Viking invasions and conquests about a thousand years ago are likely responsible for occurrences of Scandinavian ethnicity throughout other regions. And there are similar examples for other ethnicities. With your results, we provide historical information describing migrations to and from the regions to give you a broader picture of the origins of your DNA.

Similarly, the “Central European” label is defined to include the enormous swath of land in Europe including the modern day locations of Austria, Belgium, France, Germany, Netherlands, Switzerland, Slovenia, Czech Republic, Luxembourg, and Liechtenstein.

I certainly don’t think of France as being “Central Europe,” which shows that a test-taker shouldn’t rely on the labels alone. Dig a little deeper.

• Non-Paternal Events (NPEs)

I won’t dwell on non-paternal events, because I believe they have become too much of a scapegoat.  Non-paternal events, or NPEs, can be broadly defined as secret or unknown breaks in your Genealogical Tree (adoption, infidelity, etc.).  At some point every single Genealogical Tree has an NPE, although current estimates vary widely.  Consider the possibility of a break in your tree, but focus on the other factors presented here as the more likely explanation for your unexpected results.

Reviewing My Genetic Ethnicity Prediction

I have a fairly well-documented Genealogical Tree.  My documented ancestors were mostly from the British Isles (England and Ireland) and France, with far fewer ancestors from Germany, and Central America.  Years ago, based on my paper trail, I might have predicted 65% British Isles, 20% Irish, 15% French, and 5% German.

In light of the above, let’s review my AncestryDNA Genetic Ethnicity Prediction:

• Scandinavian – 78%
• Central European – 12%
• Uncertain – 10%

At first glance and without any of the knowledge above, these numbers seem way out of whack.  I don’t have a single document ancestor from Scandinavia or the area I think of as “Central Europe.”

However, when I learn that “Central Europe” includes France and Germany, a contribution of 12% “Central European” doesn’t seem far-fetched.  Further, considering that ancestry in the British Isles can include “Scandinavian” ancestors as a result of relatively recent Viking conquests (on a genetic timescale), perhaps the 78% Scandinavian isn’t so far-fetched either.

While I am still surprised that I don’t report any British Isles DNA, that could simply be because of difficulties in deciphering between Scandinavian and British Isles, or perhaps because of the random inheritance of DNA from those ancestors rather than others.

Lastly, where’s my confirmed Native American and African DNA?  Well, these percentages are rather small (­~ or <5% each) and I’m sure they’re contained within the “Uncertain” category.

In any event, I’m not discouraged by my results, and I fully expect my results to change over time.

Conclusions

Lastly, as Ancestry.com has warned, don’t forget that your results are subject to change with revisions of their algorithms and new discoveries.  And if Ancestry.com is dedicated to the best and latest results, your results almost certainly will and should change.

Your Turn

What are your percentages?  Do they match your expected percentages?  If you were unhappy with your AncestryDNA Genetic Ethnicity Prediction, does any of the above change your view?

I’ve written about Ancestry.com’s new autosomal DNA product, AncestryDNA, a number of times (see my review of the product at Ancestry.com’s AncestryDNA Product ).

Today, Ancestry.com announced the official release of AncestryDNA (see press release below).  It is initially available only to Ancestry.com subscribers, at a cost of $99.

The launch page is here.

Press Release:

Ancestry.com Launches new AncestryDNA Service: The Next Generation of DNA Science Poised to Enrich Family History Research

Affordable DNA Test Combines Depth of Ancestry.com Family History Database with An Extensive Collection of DNA Samples to Open New Doors to Family Discovery

In the past, I’ve reviewed new autosomal DNA testing options offered by 23andMe and Family Tree DNA:

• Genetic Testing With 23andMe
• Genetic Testing With 23andMe – Ancestry Testing
• A Review of Family Tree DNA’s Family Finder – Part I
• A Review of Family Tree DNA’s Family Finder – Part II

Today, I’m reviewing the new autosomal DNA test from Ancestry.com called “AncestryDNA.” I’ve already written at length about AncestryDNA, so I won’t cover too many of the basics here.  I have an in-depth introduction to the product located at “Ancestry.com’s AncestryDNA Product,” which you might want to check out before or after reading this review in order to gather more information.

AncestryDNA: An Introduction

The introduction page, which appears after clicking on “View Results” on the front page, consists of my Genetic Ethnicity Summary and the Member DNA Matches (which is further broken into close cousins and distant cousins, as discussed in detail below).  Please note that for purposes of this review I’ve removed the identifying information for my genetic matches.

Genetic Ethnicity Summary:

My genetic ethnicity results, which suggest 90% European and 10% Uncertain, are very interesting.  In a recent webinar with the AncestryDNA team, they reported that the genetic ethnicity analysis is still very early in the beta phase, and will continue to be updated and refined as new reference populations are added.  Indeed, I’m predicting that over time as new information is added and the algorithm is refined, some or all of my10% Uncertain will be categorized (perhaps to reflect my maternal Asian and African contributions, which I’ve written about before), and that some of of my 90% European may very well change.

Under a heading “About Your Ethnicity” is a pop-up file with more information about Ancestry.com’s ethnicity estimation algorithm.  In that file, under “Is It Accurate,” for example, Ancestry.com provides the following:

When determining your genetic ethnicity, we hold our process and results to an extremely high standard of accuracy.  Our lab’s analysis uses some of the most advanced equipment and techniques to measure approximately 700,000 points in your genome (with at least a 98% rate of accuracy).  We compare that to one of the most comprehensive and unique collections of genetic signatures from around the world.  And as this collection improves over time, it can only get better.

I’m not sure whether the AncestryDNA tests these 700,000 SNPs, or whether it tests more SNPs but is currently using a subset of 700,000 for its analysis.  I’ll try to find this information.

I thought it might be interesting to compare my genetic ethnicity results from the three companies (Ancestry.com, 23andMe, and FTDNA):

Ancestry.com’s AncestryDNA:

• 78% Scandinavian
• 12% Central European
• 10% Uncertain

23andMe’s Ancestry Painting:

• 98% European
• 2% Asian
• <1% African

Family Tree DNA’s Population Finder:

• 68% European (Northeast European) – Finnish
• 32% Middle East (Jewish) – Jewish

After reviewing the results one thing is certain: all three companies estimate a strong European contribution to my genome, particularly Scandinavian (ranging from 68% to 78%).  It’s ironic, however, that I have yet to identify a single Northern European ancestor!  I certainly won’t be surprised when one pops up someday.

Clicking on “See Full Results” takes me to a more detailed analysis of my ethnicity results, but not before I click through the following pop-up:

Please keep in mind…Our prediction of your genetic ethnicity is not yet finalized. As we gather more DNA samples and continue our research we expect your ethnicity results to become more accurate and perhaps more detailed.

As I stated above, the ethnicity results are likely to change over time, so be forewarned.

The Full Results page – reproduced below – includes historical and anthropological information about each of the identified regions from your ethnicity profile (Scandinavian and Central European, for me).  It also shows a list of genetic matches who share the relevant region (it’s a long list along the right lower side of the page, but it’s not shown below for privacy reasons).  You can also zoom into the map where ancestors from a tree you’ve linked to your account are displayed.  For example, I have 8 listed in Ireland and 2 in Central Europe.

In summary, Ancestry.com’s AncestryDNA test provides a genetic ethnicity/region calculation based on about 700,000 SNPs and a large collection of both public and proprietary reference databases.  The product can currently categorize DNA into at least 22 different ethnicities/regions, with more to come.  So be prepared for changes to your estimation as their algorithm and databases grow.

Member DNA Matches

Also on the introductory page is a listing of genetic matches.  These are individuals that, based on shared segments of DNA, you are predicted to share a common ancestor with.  An interesting aspect of the DNA matches list, however, is a sliding scale for the relationship confidence level, which ranges from 99% to 10%:

• 99% Confidence – Immediate Family
• 99% Confidence – 1st Cousins
• 99% Confidence – 2nd Cousins
• 98% Confidence – 3rd Cousins
• 96% Confidence – 4th Cousins
• 50% Confidence – Distance Cousins
• 20% Confidence – Distance Cousins
• 10% Confidence – Distance Cousins

Accordingly, the introductory page can be customized to only display cousins of a certain confidence level.  If I reduce the confidence level to 96%, for example, I only have two matches (my two predicted fourth cousins shown in the picture above).

Clicking on the “What Does This Mean” link next to the  possible relationship range on the “Review Matches” page for each genetic cousin (see the figure below) causes the following information to be displayed, along with some nice inheritance charts:

Predicted Relationship Info: FOURTH COUSIN

…

It’s interesting to note that (at this degree of separation) we are accurately able to predict only about 85% of the possible relatives that are out there—in other words there is a 15% chance that our DNA analysis does NOT recognize an actual relative of yours. One way to be more certain that the DNA testing captures as many relatives as possible is to have multiple members of your immediate family tested.

It is also interesting to note that at this degree of separation we are sometimes wrong in our prediction of a real relationship. We’ve found that for this relationship about 15% of the time we predict a relationship that cannot be found in any family tree.

This provides some interesting insight into AncestryDNA’s matching algorithm and, accordingly, the algorithm’s results.  For example, it’s important to always keep in mind that there is a roughly 15% chance of incorrectly labeling an individual either as a match or as not being a match.

As the user slides the scale from 99% down to 10%, more results typically appear.  For example, I currently have two 4th cousins listed as matches, 9 matches with 50% confidence, 14 matches with 20% confidence, and 38 matches with 10% confidence.  I expect these numbers to increase considerably once more test results become available.  I don’t know how big the AncestryDNA database currently is, but I’m guessing that only a few 100 to a few 1000 people, at the very most, have undergone testing so far.

Comparing Family Trees

The true power of the AncestryDNA test lies in the ability to automatically compare your uploaded family tree with the uploaded family tree(s) of genetic matches.  For example, one of my predicted fourth cousin matches has a public tree with 408 people.  Clicking on “Review Match” takes me to the next page with more information (see the next screenshot) including each of the following:

• A predicted relationship and predicted relationship range;
• Our ethnicity comparison (a very cool and potentially very useful feature);
• My genetic cousins’ entire tree out to 7 generations (and a link to see more);
• A possible shared ancestor (a “shaky leaf” hint) if one is identified;
• Surnames that we share in common; and
• My genetic cousins’ surnames through 10 generations.

I especially like the Genetic Ethnicity Bar (I just made that up, but I guess it fits) comparison, which shows your ethnicity prediction next to your matches ethnicity prediction.  For example, my fourth cousin displayed in the image below is 93% British Isles and 7% Uncertain.  Since I have no reported British Isles genetic contribution, my Genetic Ethnicity Bar is gray:

 On the other hand, if there is some matching ethnicity contribution, the Genetic Ethnicity Bar comparison will look like this:

This genetic match and I, predicted to be distant cousins, both have contributions from Central Europe and Scandinavia.  My match also has British Isles and Middle Eastern, which I am estimated not to have.

Also on the the “Review Match” page is a link to send a message to the match (very important for genealogists).  I also like the “Last signed in” information, which lets people know just how active a genetic match might be (and why they aren’t answering your email!).

Common Ancestor and Shared Surnames

As can be seen from the last two screenshots, the list of shared surnames (if there are any) is prominently displayed near the top of the page.  If there was an individual in common between our trees, he or she would also be displayed there.  Unfortunately, when I review the match with each of my possible genetic cousins, I typically have one or more shared surnames, but none have a single identified common ancestor.  I was hoping for such a match, but I’ll have to be a bit more patient.   While I currently have about 55 matches, only some of those have public trees, and even fewer have substantial family trees (larger trees increase the likelihood of identifying a possible shared ancestor, of course).

Conclusion

This post included just a few initial thoughts about my testing experience and results.  I may add more information, or create a new post, as I continue to review my results.  If you have any questions about the testing process or ancestry results that I didn’t address, please feel free to leave a comment.  I’m sure many other people have the same question, so don’t hesitate to ask.  I’ll also try to get the AncestryDNA team to answer any questions I can’t answer.

While there is currently no information about when AncestryDNA will be available, or pricing, I’m sure that this will be available soon.

I’m looking forward to your comments, ideas, and questions.

(Disclosure:  I received my AncestryDNA test without charge from Ancestry.com for review purposes and beta testing.  Regardless, I have attempted to review this product as honestly and as objectively as possible in order to provide valuable information about AncestryDNA to my readers.)

I’ve written before about Ancestry.com’s new AncestryDNA autosomal test.  See, for example:

• Ancestry.com’s Autosomal DNA Product – An Update
• The Legal Genealogist Discusses Ancestry.com’s New Autosomal Testing 
• WDYTYA Reveals More Information About Ancestry.com’s New Autosomal DNA Testing

Webinar with Ancestry.com

Last week, I participated in a webinar with Ancestry.com regarding the AncestryDNA test (although, unfortunately, I had to leave a bit early due to a previous engagement).  It was a great list of about 10 well-known genealogy bloggers, each one of whom is someone I’ve been reading or following for years.  It was an honor to be included among them.

One of the participants was CeCe Moore of Your Genetic Genealogist.  CeCe has a nice summary of the webinar and the important points about the autosomal test and the user interface at “New Information on Ancestry.com’s AncestryDNA Product.”  If you’re interested in autosomal DNA testing, or in Ancestry.com, I highly recommend reading her post.

The Power of DNA

The highlight of the webinar – and of the AncestryDNA product – was the combination of DNA and family trees.  I’ve said before that the ability to combine DNA and the paper trail is the future of genetic genealogy, and the true power of DNA.

The AncestryDNA test automatically compares your family tree (if you have one hosted at Ancestry.com) to the family tree of your genetic matches (if they have one hosted at Ancestry.com, and if it’s public).  The user interface then suggests overlapping individuals that might be the source of the shared DNA!  The user interface presents this information as a “Potential Common Ancestor,” and provides it as a “shaky leaf” hint.  Thus, as with all shaky leaf hints, it should be subjected to further research and not blindly accepted.

You can also see the first 7 generations of each genetic match in your user interface (again, if their tree is public), another great benefit.

While there are of course MANY caveats to this matching algorithm, it eliminates a time-consuming step in sharing information with genetic matches, as many of us know from [many hours of] experience.  (I didn’t get a chance to ask if the matching algorithm takes into account the predicted relationship range of the genetic cousins being matched, but I’ll try to get that information for you.)

If you think about it for a moment, the power of this approach is mind-boggling.  Over time it will create a mesh of DNA and genealogies, with individual data points that can be confirmed or rejected based on the results of numerous test-takers.  In other words, there will be an enormous DNA family tree.  Not only that, but that enormous DNA family tree can then be used to test genealogical hypotheses (was John Smith’s mother a White?  was John Smith Jr. adopted? etc…).  While a long way down the road, the possibilities are endless.

Concerns About Combining DNA and Family Trees

I know there is a lot of criticism and concern about the quality of third-party genealogies on Ancestry.com.  It’s impossible to know just how subjective or objective the data in any given tree is.  It’s true that there will always be concerns about third-party genealogies, and that there will be many, many errors as genealogists begin to tie DNA to specific ancestors.

But these concerns are equally true for paper records.  Any time you tie a paper record to a certain individual in your family tree, there’s a serious possibility of error, and this error can be propagated throughout numerous genealogies.  Every genealogist has seen this before, probably many times. But the fact that we’ve recognized the error likely means that the error has been corrected through careful research.

There is nothing different or exceptional about tying DNA to ancestors.  Any time you tie a piece of DNA to a certain individual in your family tree, there’s a serious possibility of error.  Over time, however, careful and methodical research – likely contributed by many different test-takers – will allow genealogists to make the most reasoned and knowledgeable judgment.

There’s enormous power in numbers.

A Roundup of AncestryDNA Posts

Here’s a complete roundup of posts around the genealogy blogosphere about Ancestry.com’s new Autosomal DNA product (AncestryDNA):

• “Science and the “10th” cousin”at The Legal Genealogist;
•  “Ancestry.com Venturing into Autosomal DNA Testing?” at Your Genetic Genealogist
• “More Details on Ancestry.com’s New Autosomal DNA Test Offering” at Your Genetic Genealogist
• “Update on the New Autosomal DNA Test from Ancestry.com” at Your Genetic Genealogist
• “My (free) Ancestry.com DNA results – a comparison to FamilyTreeDNA” at genejourneys
• “Ancestry.com autosomal DNA test – Part II” at genejourneys

Did I miss any?  Feel free to mention them below.

Disclosure: I received a free beta test from Ancestry.com, although I have not yet received my results (I will receive them this week, I believe).  However, I have tried to review this product objectively.

“Finding Your Roots with Henry Louis Gates Jr.” is a new series from Henry Louis Gates Jr., who previously brought us series such as Faces of America, African American Lives, and African American Lives 2.  The show, which airs on PBS stations on Sunday nights, premieres March 25th, 2012 with singer/actor Harry Connick, Jr.

Last week I participated in a conference call with members of the show, including Senior Story Editor and Producer Leslie Asako Gladsjo and Chief Genealogist Johni Cerny.  Also on the call, although only able to participate for a few minutes, was Henry Louis Gates Jr.

Here are some interesting tidbits about Finding Your Roots – and genealogy in general – that I learned from the conversation:

• Gates believes that genetic genealogy is deconstructing the notion of race; never has FTDNA or 23andMe returned an African American’s testing results and reported 100% African, for example.  In other words, science is demonstrating that things are much more complicated than we would have guessed without the benefit of DNA.

• All guests on Finding Your Roots used both 23andMe and FTDNA for DNA testing – all African Americans participating in the series also used African Ancestry.  While the guests receive all their results, we may not always see them.

• Many are still wary of genetic genealogy; many potential guests even turned down the series largely because of the DNA testing involved.

• Gladsjo and Cerny noted that DNA is just another tool for the genealogist; sometimes the guests’ DNA results were very interesting, and sometimes they were “pretty boring.”

I hope you’ll be tuning in tomorrow to see Finding Your Roots.  I have a feeling that this is going to be a fascinating series.

By the way, did you catch last night’s episode of “Who Do You Think You Are” with Helen Hunt? It was another fantastic episode.  Too bad they didn’t bring in DNA testing.  With Hunt’s Jewish ancestry, it would have been a terrific opportunity to education viewers about the many unique facets of genetic genealogy testing in this population.

Over at The Legal Genealogist (one of my favorite new blogs!), blogger Judy Russell, J.D., CG discusses Ancestry.com’s new autosomal DNA testing service in “Science and the “10th” cousin.”

As I noted in a recent blog post (see “WDYTYA Reveals More Information About Ancestry.com’s New Autosomal DNA Testing“), autosomal DNA testing was featured in the recent episode of Who Do You Think You Are with actor Blair Underwood.  After revealing Mr. Underwood’s biogeographical estimates (74% African American and 26% European), they revealed a genetic cousin found in the Ancestry.com’s database:

The service identified a distant cousin (somewhere around the 10^th cousin range) who lived in Cameroon (an Eric Sonjowoh). Mr. Sonjowoh was already in the Ancestry.com database, which is why they were able to compare him to Mr. Underwood. According to Eric, someone approached him in 2005 and asked him for his DNA because African Americans were trying to trace their family back to Cameroon. I’m not sure what database the DNA was in, but it shows that Ancestry.com has pre-populated its database with at least some samples from other public and/or proprietary data sources.

Ms. Russell expresses concerns over the identification of the relationship between Mr. Underwood and Mr. Sonjowoh as “1oth Cousins:”

I have a bit of an issue with telling person A (Blair Underwood) that person B (Eric Sonjowoh) is a 10th cousin when there isn’t a prayer of a paper trail to support that statement — and the science isn’t good enough to say it either.

She notes – very correctly – that autosomal testing alone cannot identify a relationship as being 10th cousins rather than anything ranging from 5th, 12th, or 15th cousins, or even beyond.

As you can see from my summary above, I had assumed that the label “10th Cousins” was not intended to be an exact identification of the relationship (I wrote: “somewhere around the 10th cousin range”), but an approximation similar to those used by both 23andMe (for example, “3rd to Distant Cousin”) and Family Tree DNA (for example, “5th Cousin – Remote Cousin”).  Unfortunately, it’s difficult to determine from the portion of the user interface we saw in the program whether or not the “10th cousins” applies to a range or is intended to be a more definitive determination.

In any event, I agree with Ms. Russell’s conclusion.  It is vital that users of any autosomal DNA testing service understand both the capabilities and limitations of the science, and that testing providers work to educate their customers.  It will be interesting to see more of the Ancestry.com user interface when the product officially launches.

Here’s a few links to some other discussion of DNA testing and Ancestry.com’s service following Mr. Underwood’s episode of WDYTYA:

• “Blair Underwood, Who Do You Think You Are?” at tracingthetree;
• “Blair Underwood talks tracing his African roots and ‘Streetcar’ role” at the grio; and
• “Blair Underwood’s African Roots on WDYTYA?” at Ancestor Search Blog.

By the way, a congratulations to Ms. Russell on her recent certification as a Certified Genealogist!

[Update (2/24/12): Some genealogy forums are reporting that callers to Ancestry.com are being told that the autosomal DNA test will publicly launch in approximately 1 month (late March or early April).]

Tonight’s episode of Who Do You Think You Are? featured African-American actor Blair Underwood. For those not familiar with Who Do You Think You Are, the 1-hour program examines the genealogy of a celebrity, typically focusing on one or two of their most interesting families.

DNA Testing

This episode was of particular interest to me because it featured Ancestry.com’s new autosomal DNA testing service, which I’ve written about before (see “Ancestry.com’s Autosomal DNA Product – An Update”). While there wasn’t too much new information about the DNA product in this episode, it was an interesting sneak peek at the service.

In the beginning of the episode, as Mr. Underwood visits with his family to get a start with his genealogy, he shows a DNA collection kit with two long swabs and a mail return envelope. Ancestry.com is using cheek swabs rather than a saliva sample to collect DNA.

Admixture Results

Later in the episode, Mr. Underwood reviews his DNA test results with Dr. Ken Chahine (LinkedIn profile), who is described as the “General Manager Ancestry DNA” in the episode. Dr. Chahine has a Ph.D. in biochemistry and a J.D. (very similar to my own background). According to Dr. Chahine, the test Mr. Underwood used examined approximately 700,000 “links” (or SNPs) in the DNA chain.

Mr. Underwood’s results suggested that the DNA examined was approximately 26% European and 74% African, which is a fairly common admixture for African Americans. Under the “European” tab of the user interface, he was described as 20% French/Swiss and 6% German. Under the “African” tab, the results showed 27% Bamoun, 22% Brong, 13% Yoruba, and 12% Igbo (a total of 74%).

Genetic Cousins

Next, Dr. Chahine asked, “Where would we find your closest DNA matches?” In other words, the Ancestry.com autosomal testing service will also include the ability to identify genetic cousins in the database.

The service identified a distant cousin (somewhere around the 10^th cousin range) who lived in Cameroon (an Eric Sonjowoh). Mr. Sonjowoh was already in the Ancestry.com database, which is why they were able to compare him to Mr. Underwood. According to Eric, someone approached him in 2005 and asked him for his DNA because African Americans were trying to trace their family back to Cameroon. I’m not sure what database the DNA was in, but it shows that Ancestry.com has pre-populated its database with at least some samples from other public and/or proprietary data sources.

Interestingly, Dr. Chahine indicated that Mr. Underwood and Mr. Sonjowoh are related through Mr. Underwood’s paternal line. I’m guessing that they determined this by also testing one of Mr. Underwood’s parents (either directly testing his father, or by process of elimination by testing his mother).

At the end of the episode, Mr. Underwood and his father traveled to Cameroon to meet Mr. Sonjowoh and his family, which was a touching reunion. Although their relationship is extremely distant (perhaps as much as 300 to 400 years), it provided Mr. Underwood with a connection to his roots in Africa.

(I almost titled this post as “23andMe Bringing New Blood to Marketing,” but there’s nothing worse than a bad pun!).

Business Insider is reporting (“Sergey Brin’s Wife Is Hiring A Marketing Team For Her Gene Startup“) that 23andMe is looking to increase the marketing of their services.

In an interview with Business Insider, Anne Wojcicki reported that the company is creating a marketing team.  Indeed, I’ve seen at least one marketing position (VP of Marketing) offered by 23andMe in several locations over the past 2 weeks (see here and here, for example).  It looks like it would be a very interesting and fun position.

The article also notes that as of October 2011, the 23andMe database officially had 125,000 subscribers.

It’s not clear from the article what prompted Business Insider’s discussion with Ms. Wojcicki, or whether the marketing team was the only subject matter of the interview.  I’m guessing that they saw the job offerings I mentioned above and asked to speak with her about it.

I’m interested to see who 23andMe hires for their marketing efforts, and what new marketing campaigns come out of the team.  There is a great deal of potential for marketing 23andMe’s services, especially in light of the current affordability of DNA testing and the company’s existing involvement in social media platforms.

GeneticScreening.com

The article also discusses 23andMe’s recent acquisition of the domain name geneticscreening.com, which it previously reported on (“23andMe Snags GeneticScreening.com For A Mere $2200“) (via DomainShane).  The domain currently redirects to 23andMe’s site.  While DomainShane claims that the purchase was “maybe even the buy of the year,” I’m surprised by how much attention is paid to a simple domain name purchase.