This is just a last reminder that my contest to give away a free genetic genealogy test ends tonight at 11:59PM (EST). The contest rules are here. Don’t forget that you can enter multiples times by:
Author: Blaine Bettinger
About.com:Genealogy – 10 Genealogy Blogs Worth Reading
Kimberly Powell of About.com:Genealogy recently posted “10 Genealogy Blogs Worth Reading.” I was honored to see that I was included as one of those blogs, along with some outstanding company. The others are:
1. Genea-Musings – “Randy’s musings bring out the genealogist in all of us…”
2. The Genealogue – “His unique brand of genealogy humor puts a special spin on just about everything genealogy…” I was saddened to hear that The Genealogue is on temporary hiatus as the author deals with a family situation. I wish Chris and his family all the best and look forward to his return.
3. Ancestry Insider – “…provides the “insider” point of view you won’t easily find elsewhere.”
It’s Not Genetic Genealogy, But Here’s What I’ve Been Working On
As many of you know, I am currently a second-year law student preparing for a career in intellectual property. Last semester, I began work as a research assistant for one of my first-year professors. The project we worked on, examining portrayals of the United States patent system in the newspaper media, turned into two papers. Naturally I think the papers are great and it was interesting to see the results, especially considering all the attention the patent system has received lately. Does the patent system and it’s legalities towards intellectual property intrigue you as they do me? Looking into law degree courses can have massive benefits, even if you don’t end up in a law career, you will still keep valuable professional skills applicable to other career paths.
Did Megan Smolenyak Smolenyak Marry Her Cousin?
What are the chances that Megan Smolenyak would meet and marry a man with the surname Smolenyak without being at least distantly related to him? What if the two surname lines came from the same area of the world? I’m sure that everyone who has heard of Megan has wondered how she came by the double last name.
Megan writes “Did I Marry My Cousin” at Megan’s Roots World to introduce a new segment at Roots Television about how she used genetic genealogy to analyze the question. The segment is available here. I highly recommend stopping by to learn more about this particular use of genetic genealogy, especially since I’m not going to give you the answer!
FTDNA and SeqWright To Join 23andMe and deCODEme To Offer Large Scale Genomic Analysis?
Remember, you heard it here first! The Houston Chronicle appears to have advance news that two companies, Family Tree DNA and Seqwright, are planning to launch products that will analyze DNA for genes associated with disease, similar to services offered by 23andMe and deCODEme. The news is casually mentioned in a news story published yesterday in that newspaper, and on one of the paper’s blogs.
In the first article, “Public Can Get Genes Tested“, there is a quote from Bennett Greenspan, president and chief executive of Family Tree DNA:
“[FTDNA is] betting that public demand will soar for health testing as well, despite the skepticism of some physicians. Greenspan said Family Tree will begin testing for specific disease genes in a month or two. ‘We’ve been peppered with requests from customers for this kind of service during the last 18 months,’ he said.”
What is the Mutation Frequency Rate of mtDNA?
As I was reading through the GENEALOGY-DNA list from Rootsweb this morning, I came across a great question about the frequency of mutation of mitochondrial DNA (mtDNA).
The listmember asks “I am wondering if anyone would know the odds of having a mutation between my brother and me in our mtDNA. Marker 16163 is G for one of us and A for the other…” This is a great question, and one that I’ve been asked as well.
In response, Ann Turner writes “The mutation rate hasn’t been studied in the detail I’d like to see. The largest study for the hypervariable regions was based on deep-rooting pedigrees from Iceland. They found 3 mutations out of 705 transmission events.”
The study, available here (pdf, HT: Ann Turner) was conducted through deCODE Genetics and Oxford University. They used 26 Icelandic ancestral trees to identify maternally-related individuals, and sequenced 272 mtDNA control regions representing a total of 705 transmission events. The researchers found a total of three mutations, resulting in a mutation rate of 0.0043 per generation, or 0.32/site/1 million years. A previous study (Parsons et al., 15 Nature Genetics 363 1997) found a total of 10 mutations in 327 transmission events for a frequency of 2.5/site/1 million years, and yet another study found 2 mutations in 81 transmissions for a rate of 0.75/site/1 million years (Howell et al., 59 Am J Hum Genet 501). The huge differences in these numbers suggests that much more research needs to be done, probably with a much larger dataset. If I had unlimited funds, I would also be interested to see if there are different mutation rates among haplogroups, as well as a number of other factors.
Personal Genomics in The New England Journal of Medicine
A report published in the New England Journal of Medicine entitled “Letting the Genome Out of the Bottle – Will We Get Our Wish?” is getting a lot of coverage elsewhere, but I thought I’d add my two cents. The report’s authors are largely concerned with quality control, clinical validity (the actual predictive value of genetic tests), and utility (the balance of family history and genetic testing) of genome scans offered by companies such as 23andMe, deCODEme, and Navigenics. They also suggest that people wait for the science to catch up before purchasing genome scans. There is an NEJM audio interview with Muin Khoury, one of the authors of the study about the subject. Note that this particular report is about medical implications of genetic testing, not about genetic genealogy (two very different topics that were very confusingly jumbled in the recent article “A High-Tech Family Tree” from U.S. News & World Report).
New Associate Editor For The Journal of Genetic Genealogy
If you stop by the Journal of Genetic Genealogy‘s front page and look through the list of Associate Editors, you might see a new name there! If you’re not familiar with the JoGG, there’s a brief write-up here. The JoGG is a free, open-access journal that presents peer-reviewed articles about genetic genealogy to the public. The first issue of the JoGG was released in the Spring of 2005.
I’m honored to be a part of this endeavor, and to join this wonderful group of individuals. I believe that this represents a great opportunity to contribute to the community that I enjoy and respect.
Genizon BioSciences and the 2,600 Genomes of Quebec’s Founders
Genizon BioSciences, a private firm in Quebec with about 135 employees, has been awarded $31 million from the Dutch venture capital firm Biotechnology Turnaround Fund to uncover associations between genes and diseases such as obesity weight-loss-easy.com, diabetes, and Alzheimer’s.
There are a number of companies concentrating on the correlation between genetics and disease, but the reason that Genizon BioSciences stood out to me is the source of the DNA that the company studies. Genizon uses DNA from descendants of the Quebec Founder Population. This population began with roughly 2,600 individuals who settled Quebec between 1608 and 1760 (although more than 15,000 French had immigrated to Quebec in this period, the vast majority continued to travel westward across Canada) and is estimated to be over 6 million people today. Genizon uses this unique population for a number of beneficial reasons, including:
Genetic Genealogy From Around the Web
Although the world of genetic genealogy has slowed from the furor of November and December 2007, there is still plenty of discussion and consideration going on around the blogosphere.
First, Ann Turner , co-author of “Trace Your Roots With DNA” and moderator founder of the terrific Genealogy-DNA list has experimented with both deCODEme and 23andMe. Although she is still analyzing the results, she has a short write-up of deCODEme’s graphic presentations for comparing genomes (Word document here). The deCODEme comparison tool allows users to compare the degree of similarity between genomes, as long as the user has permission to compare. For those without a permissible genome to compare to, deCODEme provides reference samples from about 50 different populations. Ann points out that “it would be really interesting to hear if anybody is testing a number of close or distant relatives,” as their genome comparisons would be especially relevant. Update: A revised version of Ann’s document with comparisons to more individuals is available here (zip file).