The Genetic Genealogist

Yesterday, Family Tree DNA announced that their 12-marker Y-DNA test, normally $99, will be only $39 for a limited time only (until February 28, 2013).  Although I typically will recommend a minimum of 37 markers to clients and readers, this is a great way to get someone’s DNA into FTDNA’s system for future upgrades.  For example, I have at least two lines of my family that I’ve been wanting to get tested, but it’s really just for curiosity’s sake rather than any pressing genealogical question.  This would be the perfect opportunity for this type of testing.

See what others have written about the sale:

• Family Tree DNA Lowers the Price of the 12-marker Y-DNA Test to $39 in Step Toward Universal Access
• 12 Marker Y DNA Test for $39

From the Press Release:

HOUSTON, Feb. 20, 2013 /PRNewswire/ – FamilyTreeDNA.com, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to $39, Family Tree DNA — the world’s largest processor of Y-DNA and full mitochondrial sequences — is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line.  In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA’s comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line.  The company expects to unveil new pricing for this test in spring 2013.

As the sponsor DNA Workshop of “Who Do You Think You Are – Live” in London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database – the largest of its kind in the world.

“We believe the first step to unearthing your personal and family history is to better understand your DNA,” Gene By Gene President Bennett Greenspan said.  “That’s why we are continuously investing in new technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices.  Our $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data.”

Customer Inquiries
Individuals interested in Family Tree DNA’s $39 Y-DNA test, or any of its ancestral testing products, can visit www.familytreedna.com for more information.

About Gene By Gene, Ltd.
Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity.  Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago.  Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests.  DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide.  Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:
Kate Croft
for Gene By Gene, Ltd.
Casteel Schoenborn
888-609-8351
croft@csirfirm.com

SOURCE Gene By Gene, Ltd.

RELATED LINKS
http://www.genebygene.com

Wouldn’t it be fun to review detailed proposals about new genealogy projects and be able to provide funding to support those projects that you think are especially worthwhile?

Crowdfunding might be one way to do just that.  For those not familiar with “crowdfunding,” it is essentially a way for people to contribute a varying degree of money to a project they are interested in, usually in exchange for a special perk.  Wikipedia describes crowdfunding as:

Crowd funding or crowdfunding (alternately crowd financing, equity crowdfunding, or hyper funding) describes the collective effort of individuals who network and pool their money, usually via the Internet, to support efforts initiated by other people or organizations. Crowd funding is used in support of a wide variety of activities, including disaster relief, citizen journalism, support of artists by fans, political campaigns, startup company funding, movie or free software development, inventions development and scientific research.

Some of the more popular crowdfunding platforms already in existence are Kickstarter and indiegogo, among many others.  One of the advantages of crowdfunding is that contributions can be as low as $5 or as high as you want to contribute.

Rewards for contributing would be priority in receiving the results of the research, an advance copy of a funded documentary, free access to scanned records, and so on.

Here are just a few examples I came up with for projects that might be suitable for genealogy crowdfunding:

• Example 1 – A documentary about the War of 1812

For this project, the filmmakers might propose a documentary about Upstate New York in the War of 1812, including the towns of Oswego, Sackets Harbor, and Plattsburgh, NY.  The film might look at the lives of everyday citizens as they struggle through the war years, and could follow the stories of the war in this region (like “The Battle of Big Sandy and the Carrying of the Great Rope in 1814“).  This project might be of interest to people who live in these regions, or had ancestors in this region, including ancestors who fought or otherwise participated in the War of 1812 and may have been at these battles.

Funders could receive advance access to copies of the film, free copies of the film, special recognition in the credits, and so on.

• Example 2 – Research an early New England colonial family

For a project such as this one, a researcher or group of researchers would propose researching a particular family or individual from the colonial period.  The researcher(s) could briefly summarize the known facts and conclusions, and then set forth any hypotheses or goals they’d like to accomplish with the funding, such as identifying three generations of descendants, or finding a female surname, or uncovering the day-to-day facts of a certain key family.

One advantage of this project is that most early colonial families have hundreds of thousands of descendants and thus a large pool of genealogists who might be interested in funding the project.

As a reward for funding this project all funders might receive, for example, a free report of the research along with all discovered primary records, and/or special recognition in any publication that results from the project.

• Example 3 – The Colonial DNA Project

The Colonial DNA Project might seek to test descendants of colonials to identify shared DNA (autosomal, Y-DNA, and/or mtDNA).  For example, it could be descendants of a particular family, or a town, or a region.  A particularly ambitious project would be – as just one example – to characterize the Y-DNA and mtDNA profile of every individual living in Hebron in 1725.

Funders could receive advance or free access to research, results, summaries, and so on.

• Example 4 – Scan a historical society’s newspaper collection from the 1800s

For this project, a historical society might propose scanning their entire 1800s newspaper collection, which is currently degrading in the basement, into an electronic database.  This project might be particularly relevant to genealogists who have ancestors from that town or county in the 1800s, and would like to see these records.

People who helped fund the project might receive advance access to the database as the records are being scanned, or could receive free access to the database instead of paying a fee.

What are some other ideas or projects you would support?

Let’s Try It!

I’m interested in trying a project like one of the above on an existing crowdfunding platform such as indiegogo.  Do you have any proposals you’ve been kicking around?  Are you interested in giving this crowdfunding idea a shot?

If I received a suitable, affordable, and intriguing proposal that I thought the genealogy community could really get behind as a “kick start” for this concept, I would gladly promote that project here on my blog, Twitter, Facebook, and at presentations, for example.  And I’d also be happy to contribute to the funding of that project!

I received my results from the Geno 2.0 test from National Genographic tonight.  The results align fairly well with what I already know about my DNA.  For example, I knew I was haplogroup A2 (a Native American haplogroup), but the A2w is new so I have to do some research there.

Even more interesting is my paternal haplogroup designation.  The NatGeo tests lists the terminal SNP instead of a haplogroup that will typically encompass multiple SNPs.  I am listed as R-Z306, which is R1b1a2a1a1a3a1 on the current ISOGG Y-DNA tree.  However, my results indicate that I am L1+, which is associated with Null439 (I previously knew I was null439).  Many believe that L1+ is downstream of Z306+, but these types of questions are exactly what the NatGeo 2.0 test will help determine.

I immediately transferred my results to FTDNA, and if you go to the public null439 Y-SNP results page (here), for example, you’ll see that under my results are listed all SNPs for which I am derived, including L1, Z306, etc.  It’s truly an incredible list, and the real power of the results will come from comparing them to many other people.

As you can see, NatGeo estimates 3.2% Neanderthal (23andMe predicted 2.7%), and 3.3% Denisovan.  I’m not completely up on my Denisovan research, but I wonder if I am enriched for Denisovan because of my Native American ancestry.

Lastly, the NatGeo results report 2% Native American, directly in line with other tests.  23andMe, for example, has consistently reported 2-3%.

Disclosure: I received a complementary test kit from National Genographic for analysis purposes. My analysis, however, is based on my own opinions of the product and the results.

This weekend I had the privilege to review an advance copy of “Finding Family: My Search for Roots and the Secrets in My DNA,” a new book by author and genetic genealogist Richard Hill.  The book is currently available at Amazon only in paperback (link here: Finding Family: My Search for Roots and the Secrets in My DNA), although eBook versions will be available soon.

Many genetic genealogists are already familiar with Richard Hill and his website DNA-Testing-Adviser.com, where he shares information about using genetic genealogy to learn about your family, especially for adoptees and birth parents.  You may also be familiar with Mr. Hill through the front-page 2009 Wall Street Journal article detailing his search for his family, or from the 2009 article in the Grand Rapids Press (“Rockford man uses DNA testing, Internet searches to find his birth father“).

Finding Family

Mr. Hill’s fascinating new page-turner describes his 30-year search for his birth patents.  Although he was quickly able to identify his birth mother, the search for his birth father took much, much longer.  As the author writes:

Finding Family: My Search for Roots and the Secrets in My DNA is Richard Hill’s true and intensely personal story of how he pieced together the long-kept secret of his own origins. This highly suspenseful book is a page-turning saga of personal detective work that will appeal to anyone who loves a good mystery.

I found this 260-page book waiting for me in my mailbox on Friday evening after work, and before 24 hours had passed I finished the last page.  I was completely unable to put it down, anxious to discover the conclusion of Mr. Hill’s decades-long search (even though I knew how it ended!).

Highly Recommended!

I highly recommend this book to anyone interested in genealogy, family secrets, genetic genealogy, or mystery in general.  The book is a complete and entertaining saga from A to Z.  Although it was occasionally challenging to follow the considerable cast of characters, I think this serves to emphasize how meticulous Mr. Hill must have been in his research and record-taking.  Without good notes and research ability, it might have taken Mr. Hill much longer to complete his search.

Mr. Hill’s story also shows the power of genetic genealogy, especially for adoptees and birth parents.  However, the story also shows that DNA alone is not a magic tool; as I’ve argued for many years now, DNA is a tool that supplements traditional research.  Genetic genealogy is at its best when combined with a well-researched paper trail.  In the case of adoptees with no hope of a paper trail, DNA might provide clues that will help point you toward the paper trail.

You can get more information about using genetic genealogy to supplement your search by reading Finding Family: My Search for Roots and the Secrets in My DNA, or my visiting Mr. Hill’s great website at DNA-Testing-Adviser.com.

I met Dick in the fall of 2011 at the Family Tree DNA administrator’s meeting, although we had corresponded several times prior to meeting in person.  Dick was warm and inviting, and it clearly shows in his book.  He has connected with innumerable people in his search for family, and by reading his book I now count myself among them.

Disclosure: I received a free copy of Mr. Hill’s book to review for The Genetic Genealogist. However, this review reflects my honest thoughts about the book.

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 just discovered today that The Genetic Genealogist was recently included in a list of 50 top genealogy blogs by Inside History Magazine.

Inside History Magazine is a periodical “for people passionate about Australian and New Zealand genealogy, history and heritage.”  The current May-June 2012 issue has an article entitled “Entering the Blogsphere” in which author Jill Ball (of Geniaus) writes about the prevalence of genealogy bloggers.  As part of the article, she compiled a list of 50 blogs that “every genealogist needs to follow.”

I’m honored that The Genetic Genealogist was included in this list, especially considering the others blogs, many of which I’ve been reading for years!

Be sure to check out Inside History Magazine and the many terrific blogs listed in the article.  Also, Jill just included a nice follow-up list of “the blogs that got away.”

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

Today begins the first in a series of articles about the use of genetic genealogy and personal genomics in the classroom, ranging from high school to college-level.

Many scientists and health care experts believe that genetics will be a vital component to several facets of our lives in the future, especially in the field of medicine.  Indeed, some consider the study of genetics to be one of the most promising solutions to many of the health dilemmas facing society today, including advancing our understanding of interactions between genetics and the environment.  Accordingly, today’s students should have at least a basic grasp of genetics, and science educators must find innovative ways to share those concepts with their students.

A Need for Genetics Education

Unfortunately, some studies suggest that many of today’s students lack comprehension of some of the most basic concepts in genetics.  See, e.g., Wood-Robinson, C., Lewis, J. and Leach, J. 2000, Young people’s understanding of the nature of genetic information in the cells of an organism, J Bio Educ 35(1):29-36; and Quinn, F., Pegg, J., and Panizzon, D. 2009, First-Year Biology Students’ Understandings of Meiosis: An Investigation Using a Structural Theoretical Framework, Int’l J. Sci Educ 31(10):1279-1305.

While students certainly can learn about genetics through lectures and textbooks, there is little doubt that hands-on experiences help reinforce concepts and may even reach some students that are less likely to learn from passive methods.

Over the next few weeks, we’ll examine several instances of genetic genealogy and/or personal genomics being used in the classroom to examine and reinforce concepts of genetics, race, and ethics, including the following:

• The Genographic Project  in High Schools (Chicago Public Schools, Soldan International High School, Edward Bleeker Middle School, and Olympic High School) (2007-)
• The Cornell Genetic Ancestry Project (2011)
• 23andMe Testing for Freshman at Berkeley (2010)
• Medical School Testing (SUNY Upstate Medical University and Stanford) (2010-)
• Anthropology and Genetics at Penn State University (2012)
• Personal Genetics Education Project (www.pged.com)

Without further ado, let’s begin with the use of genetic genealogy in schools.

The Genographic Project in Middle and High Schools

Each of the school projects below were conducted in conjunction with the The Genographic Project, which has done a tremendous job of working with public schools to educate students about their genetic ancestry.

A.  Chicago Public High Schools in 2007

The earliest reference I can find of commercial genetic genealogy being used in the classroom is from 2007, when The Genographic Project (National Geographic, IBM, and Family Tree DNA) donated 150 testing kits to each of five Chicago Public Schools and 50 kits to each of their international partner schools in England, Jordan, France, South Africa, and China (a total of 1000 kits, priced at approximately $100 each).

According to several reports, the teachers at these schools expected the testing to provide the students with valuable information and experiences:

Parents ‘hear DNA, all they think about is “CSI.” It’s not like that at all,’ said Brian McKay, who teaches European history at the Charles A. Prosser Career Academy and scraped his own cheeks for cells on Tuesday. ‘Our kids are going to get a lot out of this. (Students) are very positive, they’re very excited.’  Source.

Prosser Principal Ken Hunter stated that:

“We are more than excited to help our students learn about our world’s common threads. At Prosser we tell our students to “extend the world”—this project presents them with a wonderful opportunity to make those words come alive in real world application. My teachers are thrilled to be taking part in such a thoughtful learning activity that brings the idea of common ancestry and shared humanity to our students in such a powerful and compelling way. This ‘learning tool’ has really helped make the education experience here at Prosser ‘the stuff that dreams are made of.” Source.

Interestingly, the schools involved were chosen based in part on the diversity of the student population:  “‘Chicago is a melting pot, a multicultural melting pot, it’s a great place to illustrate how interrelated we are,’ [Spencer] Wells said.”

The launch of the project was covered by The Genographic Project itself, and by the media:

• “Who Are You and Where did You Come From? Tracing Your Ancient Ancestors in the Classroom,” The Genographic Project (January 23, 2007);
• “The Silk Road Project Meets the Genographic Project,” The Genogrpahic Project (date unknown);
• “Chicago 10th-graders trace ancestry through DNA,” AP report (January 22, 2007); and
• “Tracing a Common Ancestry,” Chicago Tribune (January 24, 2007)

Unfortunately I was unable to find any reports of the outcome of the testing, so it’s unclear what lessons the students derived from the experience.

B. Soldan International High School in Chicago in 2007

In 2007, forty advanced placement science students at Soldan International High School in St. Louis, Missouri submitted their DNA for testing with the Genographic Project.  (see “High school students uncover their past through their DNA“) (several articles also appeared in the St. Louis Dispatch, but are now found only in the newspaper’s archives).

At Discovering Biology in a Digital World, blogger Sandra Porter wrote the following about the Soldan project:

Most science instructors steer clear of these sorts of activities because there is a real possibility that children might learn some things in class that their parents would prefer remain secret. Any science instructor who’s had to find a really creative way to explain why a student has the “wrong blood type” based on their parentage, will appreciate that analyzing Y chromosomes has potential for trouble.  I wonder how the teachers at Soldan will answer those questions.

I actually wrote about this project here on TGG back in 2007, the early days of the blog, partially to address the concerns that were raised (see “Genetic Genealogy in the Classroom”).  As Sandra’s blog post suggested, some were concerned that testing in the classroom had the potential to reveal non-parental events.  To address this issue, I posited the following:

“although there is surely a chance of there BEING a non-parental event in a large group of students, the chance of CONCLUDING that there was a non-parental event is quite small. Most genetic genealogy companies return a list of allele numbers (12 alleles for the Genographic Project) for Y-DNA or a list of mutations for mtDNA along with a probable haplogroup designation. Armed with that knowledge, how is a student going to determine that there was a non-parental event?”

There are certainly some ethical concerns with genetic genealogy testing in the classroom, but non-paternal events are unlikely to be of serious concern.

C.  Other Schools

Following the apparent success of the Chicago school experiment, the Genographic Project worked with several other schools in the following years:

• Newark High School in western New York state (2007) – approximately 10 students contributed DNA to the Genographic Project for testing (see “Connecting Some Dots With Our DNA”);

• Edward Bleeker Middle School in Flushing, New York (2011) – several sixth graders participated in testing, as roughly 400 students at four different New York City public schools would trace their ancestry with the Genographic Project (see “Am I Related to Justin Bieber?”);

• Olympic High School (2012) – teacher Anthony Fuller used his results to educate the students about the Genographic Project and genetics (see “L.A. High Schoolers Dig in to the Genographic Project”); and

• Harlem Children’s Zone in Harlem, NY (2011) – In last Sunday’s episode of “Finding Your Roots with Henry Louis Gates, Jr.,” Gates tested a group of six or so African American students at Harlem Children’s Zone.  The testing appears to have analyzed only their ethnicity, which varied considerably.  What was most interesting, however, was that Gates discussed with them the implications of their testing, and asked for their thoughts after receiving their test results.

A Useful Exercise: Estimating Admixture Before Testing

On Finding Your Roots, Gates also had the students estimate their admixture before they received their results, which is a great way to introduce the scientific and historical concepts associated with admixture testing.  This is a tool that Gates has already used at least once in the series, and I’m sure we’ll see it again.

Another useful component of this exercise might be to have the kids do some preliminary research on their own family tree before estimating their admixture, including research as simple as asking parents and grandparents.  With this information, they could make a more educated estimate of their admixture.

Conclusions

Although using genetic genealogy in the classroom is not new, it hasn’t been used as extensively as it could be.  What suggestions do you have for the successful use of testing in the classroom?

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.)