The Genetic Genealogist

Adding DNA to the Genealogist's Toolbox

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23andMe is Hiring a Marketing Team

(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.

 

MyHeritage and Family Tree DNA Partner to Offer DNA Testing

 

 

 

 

As I’ve stated many, many times in the past, the future of genetic genealogy is combining test results with both family trees and paper records.

Today, MyHeritage and Family Tree DNA announced a partnership that will bring that future one step closer to reality.  MyHeritage will offer a full line of tests (13 in total) through FTDNA, including these basic introductory tests (with discounts – not shown below – for MyHeritage subscribers):

  • Y-DNA12 (12 Y-STR markers) – $99
  • mtDNA (HVR1 region) – $99
  • Family Finder (autosomal test) – $298

The FAQ page for the tests is here (and I note that although they currently do not allow import of test results from other providers, they plan to in the future).  I wonder if existing FTDNA test-takers can import their results?

Given MyHeritage’s worldwide reach and enormous membership (62 million members around the world!), it will be interesting to see whether this new partnership expands genetic genealogy testing in other parts of the world, which have been slow to try this technology.

Today’s Press Release:

MyHeritage brings DNA testing to the global community

World’s largest family network offers DNA testing to a new global audience – enabling millions of families to discover their ethnic roots and previously unknown relatives

PROVO, Utah & LONDON & TEL AVIV, Israel – February 16, 2012: MyHeritage, the most popular family network on the web, announced today the integration of DNA testing into its core family history offering. The move adds genetic genealogy to the company’s suite of tools for researching family history, used by millions of families around the world.

With more than 62 million registered users and 21 million family trees, MyHeritage has become the trusted home on the web for families wishing to explore their family history, share memories and stay connected. With the new biological layer added to the MyHeritage experience, users can now enjoy a service combining science, intuitive web features and social networking for discovering and sharing their family legacy.

“DNA testing provides a fascinating new way to discover one’s origins and find previously unknown relatives”, said MyHeritage Founder and CEO Gilad Japhet. “Offering the highest quality DNA tests to our tens of millions of users around the world in 38 languages, and providing DNA matches with hundreds of thousands of people who have already had their DNA tested, significantly advances our mission of bringing family history to the masses. By combining DNA with our innovative Smart Matching™ technology, families will be closer than ever before to constructing a more complete picture of their history”.

DNA is the hereditary material in humans and almost all other organisms. By purchasing a simple cheek-swab DNA test, users can now use information contained in their DNA to find present-day relatives who share a common ancestor up to many hundreds of years ago. A DNA test can also reveal ethnic origins such as Native American, African or Jewish descent on paternal or maternal lines, as well as uncover ancestral information for those who were adopted.  While DNA tests can break through brick walls in family history research by revealing biological relations, MyHeritage’s flagship Smart Matching™ technology then steps in to help piece together the paper trail by uncovering how the family trees of related people actually connect. In addition, people with the same paternal surname can get together via MyHeritage to see if they’re related by DNA.

MyHeritage is introducing today a wide range of DNA tests to meet different research objectives and budgets, with special discounted prices for MyHeritage subscribers starting from as low as $84. Users can identify the deep ancestral origins of their direct paternal line (Y-DNA), of their direct maternal line (mtDNA), find relatives across all lines via autosomal DNA (Family Finder), receive a percentage breakdown of their ethnic roots and confirm or disprove whether someone is a close relative. View the full list of the DNA kits on MyHeritage and a list of Frequently Asked Questions about DNA tests on MyHeritage.

For the analysis of users’ DNA tests and the DNA matching, MyHeritage is working with long-time partner and global leader in genealogy DNA, Family Tree DNA. Pioneers of genetic genealogy and with a state-of-the-art laboratory, Family Tree DNA has established the world’s largest DNA database for genealogy and is well known for its work with National Geographic on the Genographic Project. All information is kept strictly confidential and is never shared.

Bennett Greenspan, President and CEO of Family Tree DNA said “We’re proud to work with MyHeritage to bring DNA testing to a much wider, global audience. The phenomenal size and reach of the global MyHeritage family network will create new horizons in collecting DNA data, helping many more people discover their ancestral origins”.

About MyHeritage

MyHeritage is the most popular family network on the web. Millions of families around the world enjoy having a private and free place for their families to keep in touch and to showcase their roots. MyHeritage’s Smart Matching™ technology empowers users with an exciting and innovative way to find relatives and explore their family history. Following the November 2011 acquisition of FamilyLink in Provo, Utah, MyHeritage offers billions of historical records through its website WorldVitalRecords.com. With all family information stored in a secure site, MyHeritage is the ideal place to share family photos and preserve special family memories. The site is available in 38 languages. So far more than 62 million people have signed up to MyHeritage. The company is backed by Accel Partners and Index Ventures, the investors of Facebook and Skype. For more information visit www.myheritage.com

Press Contact

Daniel Horowitz                                   Schelly Talalay Dardashti                   Mark Olsen

Chief Genealogist                               US Genealogy Advisor                       Affiliate Manager

MyHeritage.com                                 MyHeritage.com                                 MyHeritage.com

Daniel@MyHeritage.com                   (505) 994.1554                                    (801) 687.0599

Napoleon Bonaparte’s Y-DNA Haplogroup Belonged to E1b1b1c1* (E-M34)

Researchers have recently discovered that Napoleon Bonaparte’s Y-DNA belongs to haplogroup E1b1b1c1* (M34+).

Dominique Vivant Denon was the director-general of French museums under Napoleon.  Denon made a reliquary (a container for relics) that included the beard of Henry IV, a tooth from Voltair, and a lock of Bonaparte’s hair. 1  The “Vivant-Denon reliquary” is currently deposited in the Bertrand Museum of Châteauroux, and contains in the “right lateral compartment” a lock of Napoleon’s hair (two of which were used for mtDNA analysis. 2  Also in the reliquary is three beard hairs belonging to Napoleon.

Interestingly, when the beard hairs were examined using scanning electron microscopy, it was discovered that they were covered by remnants of shaving soap and some microscopic iron debris from the razor used to cut the beard.

DNA was extracted from the base of two of the three hairs, and was then analyzed.  First, the DNA underwent an amologenin test to confirm that it was Y-DNA.  Next, the DNA was tested for the DYS19, XCAIIa, and YCAIIb Y-STRs, and for ten Y-SNPs in the following order: M125, M174, M35, M33, M123, M81 and M78, followed by M34, M84 and M290.

The Results

The testing showed the following Y-STR results: DYS19 = 13, XCAIIa = 19, and YCAIIb = 22 (which show a probability in Whit Athey’s predictor program of 76.5% E1b1b). 3  Further, the Y-SNP results suggested the haplogroup E1b1b1c1*.

Great-Great-Great Uncle Napoleon

The results were further compared to the Y-DNA profile of Prince Charles Napoleon Bonaparte, born in 1950, who is the 4th generation descendant of Napoleon’s younger brother Jérôme Bonaparte (1784-1860) (a family tree can be found in the article).  Not surprisingly, Charles’s DNA matched that of the DNA extracted from the beard, suggesting both that the beard hairs did belong to Napoleon and that the scientist’s results are likely accurate.

The article is licensed under a Creative Commons Attribution 3.0 License and is available through the journal’s website (here).

For more information:

Footnotes:

  1. B. Foulon, ed., Dominique-Vivant Denon: L’oeil de Napoléon, exh. cat., Paris: Musée du Louvre (Paris, 2000), 480.
  2. Lucotte, et al. (2011) Haplogroup of the Y Chromosome of Napoleon the First. J. Mol. Biol. Research, 1:12-19.
  3. Athey, W. (2006). Haplogroup prediction from Y-STR values using a Bayesian allele frequency approach. J. Genet. Geneal. 2:34-39.

Ancestry.com’s Autosomal DNA Product – An Update

This morning’s Keynote at Rootstech 2012, was from Ancestry.com and was entitled “Making the Most of Technology to Further the Family History Industry.”  Although I was unable to attend Rootstech in person this year, I was able to view the keynote online.

During the panel discussion, we heard from Ken Chahine (LinkedIn profile), the Senior Vice President and General Manager, DNA at Ancestry.com.  From his profile at Ancestry.com:

Ken Chahine has served as Senior Vice President and General Manager for Ancestry DNA, LLC since 2011. Prior to joining us he held several positions, including as Chief Executive Officer of Avigen, a biotechnology company, in the Department of Human Genetics at the University of Utah, and at Parke-Davis Pharmaceuticals (currently Pfizer). Mr. Chahine also teaches a course focused on new venture development, intellectual property, and licensing at the University of Utah’s College of Law. He earned a Ph.D. in Biochemistry from the University of Michigan, a J.D. from the University of Utah College of Law, and a B.A. in Chemistry from Florida State University.

During the keynote Dr. Chahine discussed the “revolution in the science of genomics” that many people really don’t appreciate yet.  He noted that this revolution is driving all sorts of new products and development.

Dr. Chahine stated that genealogists have been doing a good job so far of using DNA for family history, but so far it’s been pretty modest, typically turning to DNA when there is a problem.  With the revolution, however, “DNA is going turn into content.”  We can now look at millions and millions of markers throughout the genome regardless of male or female.  There are about 100 errors per generation, which are “breadcrumbs” or clues left by our ancestors about where they were in the past.  We will be able to get to the point where we can analyze and use that DNA content to tell us things like:

“what town did they live in in the past, and when did they live there, and things like that that are really going to revolutionize, I think, the way we think about DNA.”

In response to a question from the panel leader about the computational and analytical challenges to autosomal DNA products, Dr. Chahine noted that he has been building a team of computational biologists knowledgeable about DNA that have been creating and refining algorithms to analyze the date and present it in meaningful ways to users.

The panelists were also asked what would be one of the biggest changes to genealogy over the next 10 years.  Dr. Chahine offered the following:

“We’re also going to integrate DNA into records in a way that people may not think is immediately obvious, but the DNA is also going to help pick out who the right John Doe that you’re looking for in the future, and we’re working on things like that.”

Hearing from Dr. Chahine was extremely interesting, educational, and entertaining.

Why Autosomal DNA Testing?

It is clear that Ancestry.com is spending considerable amounts of time and money into their new autosomal DNA offerings.  Why would Ancestry.com spend so much time and money getting into the autosomal DNA business?  There are at least several important reasons, not the least of which is access to an enormous genealogy-minded consumer database (~1.7 million current subscribers to Ancestry.com, I believe).

However, perhaps the single most important reason for Ancestry.com to get into the autosomal DNA business is their almost-unrivaled ability to combine the results of DNA testing with an enormous database of traditional records.  Combining the results of autosomal DNA with family trees and paper records is, of course, the future of genetic genealogy.  Ancestry.com users have already been combining paper records with their family trees.  I, for example, have digitally connected numerous census and other records to individuals within my uploaded family tree.  In 2012 we will be able to add autosomal DNA as yet another layer to our family trees. For example, if John Doe and I both have family trees uploaded to Ancestry.com, and our testing reveals that we have shared DNA, we can connect that shared DNA to our shared ancestors.

In the not-so-distant future, once we have this massive combination of trees, records, and DNA, we might even be able to ask very advanced questions that we can currently only dream of:

  • What DNA/genes found today traveled to North America on the Mayflower?
  • Given my known family tree and my autosomal test results, from what ancestral individual in the Ancestry.com database might I have inherited this portion of DNA?
  • Based on the shared DNA of his ancestors, please recreate the genome my great-great-great-great-great grandfather John Doe.

It is important to understand that while the amount of both information and computing power necessary for these types of questions is enormous, it will likely be within the ability of the field over the next 5-20 years.

Are there any [currently outrageous] questions you can only dream of asking today but think might be answerable in the future using DNA?

A Preview?

In anticipation of the NBC series Who Do You Think You are, Ancestry.com released several video promos.  One of these promos (HERE) includes video at 1:02 of one of the celebrities reviewing what appears to be an ethnicity analysis (entitled “Genetic Ethnicity”) of his autosomal DNA, as well as the identification of a distant cousin (thanks to Cece Moore for pointing to the video (who in turn thanks Shannon!)).  The interface states that “Ancestry.com’s DNA analysis looks at your recent ethnicity, going back about 10 generations.”

According to the interface shown in the video, which is likely to be an early version, the test breaks down biogeographical ancestry not only into broad continental categories such as “European” and “African,” but also into regions within those categories.  For example, the results shown in the video are 74% African and 20% European.  Under the “African” tab, the results show 27% Bamoun, 22% Brong, 13% Yoruba, and 12% Igbo (a total of 74%!).

The interface also shows the locations of these groups superimposed on a map of Africa, as well as nodes which appear to represent connections (possibly genetic cousins) in those populations.  Clicking on a node, for example, brings up what appears to be a genetic cousin and shows the predicted relationship (here, a 10th cousin), various biographical information (including date of birth), a link to view the individual’s tree, and a contact link.

For More Information

Cece Moore at Your Genetic Genealogist also has a great series of posts about Ancestry.com’s new Autosomal DNA product:

Be sure to following The Genetic Genealogist, and I’ll be sure to share the latest information about Ancestry.com’s Autosomal DNA product with you.

Does DNA Link 1991 Killing to Colonial-Era Family?

The genetic genealogy world is abuzz following a recent report in news outlets around the world (including CNN, Seattle PI, Daily Mail, etc) that investigators have used public genetic genealogy DNA databases for leads in a 20-year-old cold case.

The Case

In December 1991, 16-year-old Sarah Yarborough was tragically murdered in Federal Way, Washington.  Despite an extensive investigation, no suspect has ever been named.  Investigators have sketches of a man they believe might have been involved, but there is no name to put to the pictures.

Investigators did find some important evidence however: DNA left at the scene, possibly by Yarborough’s attacker.

The DNA

Late last year, investigators gave the DNA profile (apparently the Y-DNA profile) to California-based forensic consultant Colleen Fitzpatrick (who I’ve written about before here on TGG).  Fitzpatrick, it appears, compared the Y-DNA profile to publicly-available Y-DNA databases, such as Ysearch, in an attempt to identify a potential match for the profile.  After identifying potential matches, Fitzpatrick could then potentially identify the surname of the Y-DNA’s donor.  For example, if all Bettingers have a particular Y-DNA profile and a sample Y-DNA profile closely matches that particular Y-DNA profile, then it is likely that the parties are either closely or distantly related (on a scale of 10s or 1000s of years), and they could potentially have the same surname.

Therefore, by comparing an unknown’s Y-DNA profile to public databases, it is possible to find matches and potentially identify a surname for the owner of that Y-DNA (but see “The Caveats,” below).

The Search

Fitzpatrick’s research determined that the suspect’s Y-DNA profile appears to match the Y-DNA profiles of individuals with the surname “Fuller.”  Although unclear without more information, it further appears that the suspect’s Y-DNA profile specifically matches the Y-DNA profiles of purported descendants of Robert Fuller, who settled in Salem, Mass. in 1630.

Accordingly, Fitzpatrick’s research has merely suggested that the suspect MIGHT have the surname Fuller.  Nothing more, nothing less.  It is merely a lead, something that investigators will have to devote countless hours to following up on.  The lead has not provided investigators with a magical solution to their mystery, and following this discovery they are likely not all that much closer to identifying a suspect that they were before.

The Caveats

It is important to note that there are some serious caveats to this process.  Just because an unknown Y-DNA profile matches a group of surnames in a database does not automatically mean that the unknown Y-DNA donor had the same surname.  Non-paternal events such as infidelity, adoption, name change, and others can – and have – resulted in surnames being jumbled throughout history.  Thus, simply matching the unique Bettinger profile does not mean that your last name might be Bettinger; it could be Samuels as a result of great-grandpa’s roving eye, Smith as a result of your step-great-great-grandmother’s love for orphans, or Johnson because your father was tired of people spelling “Bettinger” wrong.  For all these reasons surnames have changed over time.

It is even more vital to note, however, that Fitzpatrick’s research process is absolutely neither a new nor a groundbreaking technique! It is a familiar technique that has been done MANY times before, and continues to be done.  People – including non-genealogists – have used public databases to attempt to identify their surname and/or family.  Indeed, Family Tree DNA itself has noted that male adoptees have a 30-40% chance of identifying a likely surname by comparing their Y-DNA profile to FTDNA’s database (see here: “During the introduction Max [Blankfeld] stated that 30%-40% of male adoptees find their likely surname in FTDNA’s database”).

The Concern

Some, including both experienced genetic genealogists and people who have never had a DNA test, have expressed concern that their DNA was or could be used for this purpose, a purpose that it “wasn’t intended to be used for.”  Some have stated that the search constituted an “illegal seizure” of their property, or that their DNA should not be used by “big brother.”

Further, as the ISOGG mailing list for project adminstrators has demonstrated, many project administrators are concerned that this hullabaloo will scare away potential test-takers.

The Past

Despite the concerns of the public, genetic genealogists, and project administrators, Fitzpatrick’s process is neither a new technique nor a frightening one.  It has been done before.  Further, Fitzpatrick’s process is simply a new twist on an old method.  How is Fitzpatrick’s DNA search different, for example, from any of the following (and please don’t throw any genetic exceptionalism arguments my way!):

  • Using a public reverse-phone lookup to identify the owner of a phone number?  I didn’t authorize my phone number for that use;
  • Searching through a public phone book to identify all the Bettingers in New York state? I didn’t authorize my phone book listing for that purpose;
  • Using the census to identify my ancestors? I guarantee that NONE of my ancestors authorized the use of the census for genealogical research (indeed, just think of ALL the secrets that have been revealed in the census that our ancestors would have wanted buried forever!).

Interestingly, genealogists happen to be the biggest offenders of using public databases for purposes other than the one they were intended.

My Thoughts

One of the most interesting points to me is where some genealogists have decided to draw their line in the sand.  Comparing a person’s Y-DNA profile to public databases is fine if the person is an adoptee searching for his last name, but not if the person is a criminal that investigators need to identify.

I also believe that project administrators are overly concerned.  These types of stories come and go, and this one will fade away just as all the others have.  We are (I sincerely hope) heading into an era of genetic openness, not one of genetic fear.

Lastly, the answer to this dilemma is, as always, education.  We have to educate the public and potential test-takers that if they decide to make their Y-DNA public, it will be public for any purpose any person sees fit.  They should understand this when they send in their cheek swab.  The danger to test-takers, however, is almost nil; a public Y-DNA profile is either incomprehensible or useless for 99.99% of the world.  And keep in mind that if a criminal is identified using this method, it is the criminal activity that endangered him, NOT the public Y-DNA databases!

Your Comments

What I’m really looking for here is a conversation about the pluses and minuses of Fitzpatrick’s method and the use of public DNA databases.  Are there valid concerns, or only concerns due to the lack of education?  Why do you believe these methods are different from non-traditional uses of other public databases such as the examples I listed above?  Why do you think people might be afraid of this use of their public DNA?  And how can we better education test-takers and the public to avoid these types of concerns?

[Note: I will immediately delete any comment that is aimed at Fitzpatrick herself.  She did not invent these search methods, and should not be held responsible for their use.  I'm looking for comments about the method, not the investigator].

23andMe Announces 80x Exome Sequencing for $999

Yesterday, at Health 2.0 in San Francisco, 23andMe announced that it will be offering sequencing of exomes with 80x coverage for $999.  At Exome 80x, 23andMe discusses their test:

Your exome is the 50 million DNA bases of your genome containing the information necessary to encode all your proteins. Informally, you can think of the exome as the DNA sequence of your genes.

Your entire genome is made up of your exome plus other DNA, consisting of three billion bases with repetitive sequences, sequences of unknown function, and DNA that does not code for proteins.

Note that the Exome 80x test is only available to current customers, and is determined on a “first come, first served” basis.  Further, test-takers will initially only receive their raw data of 50 million DNA bases at 80x coverage, but 23andMe plans to develop new tools to take advantage of exome sequencing.

The Exome?

Many non-geneticists will no doubt be wondering what the “exome” really is.  The exome is the protein-coding portion of your genome, and comprises roughly 1.5% of the total genome.

For insight into what type of information might be gleaned from exome data, Daniel MacArthur has an article entitled “Venter’s exome, and the challenge of rare variants for personal genomics” from August, 2008.  In the article, he discusses some of the findings from the analysis of J. Craig Venter’s exome.

The Genealogist’s Exome

As a genetic genealogist, I was of course interested in the ramifications of exome testing on testing for genetic ancestry purposes.  23andMe states the following on their Exome 80x page:

Exome data are less suitable for ancestry or genealogical research, since they will not provide mitochrondrial sequence or much information on the Y chromosome.

This is a strange sentence, and one I believe wasn’t properly screened.  In my experience few genealogists decide to pursue 23andMe testing for the mtDNA or Y-DNA results.  It’s autosomal DNA testing and tools like Ancestry Painting and Relative Finder for which most genealogists use 23andme testing, and it’s far too early to tell whether genealogists will be able to make use of exome sequencing (of course we will!).

I hope this sentiment does not discourage genetic genealogists from pursuing the Exome 80x product.  Genealogists have been – and continue to be – among the very first adopters of new DTC DNA testing (including 23andMe’s very first product back in the 2007 to 2009 time frame).  Indeed, genealogists having been driving the DTC genetic testing market since 2000 with the launch of Family Tree DNA!

The Possibilities

One of most exciting uses of the Exome 80x product might be in self-directed discovery of rare variants in genetic disorders.  Numerous rare genetic diseases, many of which likely result from unidentified rare variants, have not been exhaustively studied.  At least one group has estimated that 85% of disease-causing mutations are found in the exome.

I can envision 23andMe Community Projects for rare genetic disorders, similar to its Parkinson’s Community but much smaller in size, where several members of a family purchase the Exome 80x sequencing in an attempt to identify variants that might be involved in the disease.  These projects may be sponsored and supported by 23andme, or might simply be a family attempting to analyze their genomes themselves.

Other Viewpoints:

Will you be signing up for 23andMe’s Exome 80x product?

NFL Players Xavier Omon and Ogemdi Nwagbuo Confirmed as Half-Brothers

Direct-to-consumer DNA testing has led to the re-joining of yet another family.

Y-DNA and autosomal testing by Family Tree DNA has revealed that two NFL players , Xavier Omon (San Francisco 49ers)) and Ogemdi Nwagbuo (San Diego Chargers), are half-brothers.  ESPN has a long write-up of the story at “A brothers’ tale for Omon, Nwagbuo.”

Meeting for the First Time

The brothers had planned to meet face-to-face yesterday, September 1, 2011, as their teams met on the field.  Turns out Omon’s team, the 49ers, were victorious, meaning that if he’s anything like my brothers, he gave Nwagbuo a hard time about it!  The Mercury News has a story about the brothers’ first meeting at “Omon meets half-brother (a Charger) for first time,” and the SF Gate has a story at “49ers’ Xavier Omon meets half-brother.”

Family Tree DNA’s Press Release:

Houston, TX – August 31,2011 – Family Tree DNA, the pioneer and largest DNA testing company for genealogy purposes, through its Family Finder test, provided the conclusive proof that two NFL players are half-siblings.

Until a few months ago, Xavier Omon, from the San Francisco 49ers and Ogemdi Nwagbuo from the San Diego Chargers did not have a clue that they were related. Early August, at the request of ESPN, Family Tree DNA performed the Family Finder test on both, and the result was unequivocal: definitely half-siblings. More of the story can be found at the ESPN website,under the “Brother’s Tale” story.

The Family Finder test allows connecting with family members across all ancestral lines. While the Y-DNA matches men with a specific paternal line and the mtDNA finds potential relatives only along the maternal line, Family Finder can look for close relationships along all ancestral lines. Anyone, regardless of their gender, may confidently match to male and female cousins from any of their family lines in the past five generations. The science is based on linked blocks of DNA across the 22 autosomal chromosomes that are matched between two people. Based on this concept, Family Tree DNA bioinformatics team has worked extensively to develop the calculations that would yield the closeness of the relationship. The possibilities to find matches abound: grandparents, aunts and uncles; half siblings; first, second, third and fourth cousins; and, more tentatively, fifth cousins.

About Family Tree DNA

Founded in April 2000, Family Tree DNA was the first company to develop the commercial application of DNA testing for genealogical purposes, something that had previously been available only for academic and scientific research. Almost a decade later, the Houston-based company has a database with over 345,000 individual records – the largest DNA database in genetic genealogy, and a number that makes Family Tree DNA the prime source for anyone researching recent and distant family ties. In 2006 Family Tree DNA established a state of the art Genomics Research Center at its headquarters in Houston, Texas, where it currently performs R&D and processes over 200 advanced types of DNA tests for its customers.

Media contact

Sharon Weisz, —tel: 323-934-2700; e-mail: Sharon@familytreedna.com

“My Beautiful Genome” by Lone Frank

Lone Frank, a journalist and author with a Ph.D. in neurobiology, has just published her fourth book, entitled “My Beautiful Genome: Exposing Our Genetic Future, One Quirk at a Time” (available for pre-order at Amazon).  A chapter of the book is available here (pdf).

Frank describes her book thusly: “This book is my very personal take on personal genomics. It chronicles my meetings and interviews with leading scientists and lays out the – somtimes [sic] disquieting – discoveries I make in my own genome.”

The book is described as follows at Amazon:

“Internationally acclaimed science writer Lone Frank swabs up her DNA to provide the first truly intimate account of the new science of consumer-led genomics. She challenges the scientists and business mavericks intent on mapping every baby’s genome, ponders the consequences of biological fortune-telling, and prods the psychologists who hope to uncover just how important our environment really is – a quest made all the more gripping as Frank considers her family’s and her own struggles with depression.”

I haven’t read the book myself, although I will soon be receiving a review copy.  Once I’ve finished it, I’ll write more about the book here at the blog. There is a recent write-up of Frank’s experiences at the Daily Mail entitled “If the blues genes fit…

I’m most interested to see what Frank finds in her genome, and how she interprets and uses her data beyond the interpretation provided by the testing companies.

Family Tree DNA’s 7th International Conference on Genetic Genealogy Announced

Family Tree DNA has announced the 7th Genetic Genealogy Conference for Family Tree DNA Group Administrators, to be held in Houston, Texas on November 5th and 6th, 2011.

Featured speakers at the meeting include the following:

Another interesting speaker at the meeting will be Jessica L. Roberts, J.D., an Assistant Professor of Law at the University of Houston Law Center (recent C.V. here (pdf)).  Although it’s not clear what Roberts will be speaking about, her recent publications (pdf) focus on genetics and the law, including the Genetic Information Nondiscrimination Act.  Kudos to Family Tree DNA for again bringing together a wide array of viewpoints and opinions at the conference.

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Unfortunately I will be unable to attend the conference this year, although I made it last year and hope to make it to the next conference.  I look forward to live-tweeting of the conference, which is the next best thing to being there.  Are you attending the conference?

Interpretome: New Analysis Software for Autosomal Testing Results

Daniel MacArthur tweeted this morning about “Interpretome,” which is browser-based software that can be used to examine autosomal testing results from 23andMe and Lumigenix.  There is also an interesting blog post about the software at the blog of Konrad J. Karczewski, one of the co-creators of the software, and one by Daniel at Genomes Unzipped.

Users load their raw data files, and then can use that information to explore their genome.  There are a number of different exercises that a user can run through with their data, including health issues (diabetes, warfarin sensitivity, many other diseases, etc.), ancestry analyses, and determination of “Neanderthal SNPs,” which are SNPs that have been suggested to derive from Neanderthal ancestry (note that this science is still VERY early stage and subject to change OFTEN!).

There are two very features that I find very interesting.  First, there is an “Advanced Settings” tab where users can make several important adjustments to their analysis.  Second, the site allows for “imputation” when looking up a SNP, which means that “If the SNP is not found in your file, the utility attempts to impute the SNP using Hapmap data.“  I haven’t tried this yet, but it will be interesting to see how well it works.

Ancestry Information

Interpretome allows users to create, among other things, an “Ancestry Painting” using either HapMap2 or HapMap3 data.  For example, using the HapMap2 data, my Interpretome ancestry painting is very similar to my 23andMe ancestry painting.  For those who aren’t familiar, here are the HapMap2 populations (HapMap3 can be found here):

YRI (Ibadan, Nigeria)

CEU (Northern/western Europe)

CHB+JPT (Beijing, China and Tokyo, Japan)

Medically-Relevant Information and Privacy Issues

The creators of Interpretome do address several issues, including the medical information controversy:

No information should be considered diagnostic and as with any genetic testing service, the interpretation is not regulated by the FDA.

And the important privacy issue:

Your genome will not be sent to any server, it remains on your computer. This website will make requests to a database that only contain “rsid” (without genotypes) and “population” (self-reported in the top-right) information. At no point will any genotypes be sent across the wires (all computation will be done in the browser).

However, the creators do go on to note that some exercises have the option of submitting personal information, which “will be anonymously stored on a secure server.”  So be cautious if you’re worried about privacy, as with any testing or analysis service.  As my genome is public domain, I’m not concerned.

Family Tree DNA Results?

For fun, I also tried my Family Tree DNA results.  Since FTDNA raw data results do not contain most, if any, medically-relevant SNPs, most of the “exercises” were fruitless.  I did have some luck with the ancestry sections, although I have yet to compare my 23andMe analysis with my FTNDA analysis to determine if there is consistency.