On Thursday, December 20, 2012, 23andMe and LabCorp (Laboratory Corporation of America) were sued for patent infringement in Delaware by Australian company Genetic Technologies Limited.
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.
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.
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
Ancestry.com (Nasdaq: ACOM), today announced the launch of its highly anticipated AncestryDNA™ service, a new affordable DNA test that enables purchasers of the DNA test and subscribers of Ancestry.com to combine new state-of-the-art DNA science with the world’s largest online family history resource and a broad global database of DNA samples.
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
In the past, I’ve reviewed new autosomal DNA testing options offered by 23andMe and Family Tree DNA:
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.