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:
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).
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.
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.
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.
Specifically, Genetic Technologies has alleged that 23andMe and LabCorp infringe U.S. Patent No. 7,615,342, entitled “ACTN3 genotype screen for athletic performance.” The complaint is available here.
ACTN3 (Alpha-actinin-3) is an actin-binding protein encoded by the ACTN3 gene. A particular mutation in the ACTN3 gene (rs1815739; R577X) results in a deficiency of the ACTN3 protein. The non-mutant version of the gene is associated with sprint performance, the mutant version is associated with endurance.
23andMe does analyze the rs1815739 SNP in their tests (see “Speed Gene: Fact or Fiction?”). My own rs1815739 SNP genotype, for example, is TT, meaning that I have no working copies of ACTN3 in my fast-twitch muscle fibers. From the complaint:
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.
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“).
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.
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.
“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.”
Today (or perhaps yesterday?) popular DIY genomics website GEDmatch.com released a new tool for phasing DNA data. Listed under a link entitled “Generate phased data file,” the tool allows users of the GEDmatch.com site to phase their chromosomes if they have their parent’s raw data.
(A similar tool was previously created by David Pike at http://www.math.mun.ca/~dapike/FF23utils/; with David’s tool, users receive their results directly and do not need to upload their DNA test results; accordingly, users have a variety of options depending on their privacy tolerance).
What the Heck is “Phasing”?
Currently, SNP chip testing performed by 23andMe or Family Tree DNA is unable to attribute a test result to either one of your parents. For example, if your results for SNP rs00000 are “AG,” the test alone cannot determine whether the “A” came from your mother or father.