Today, at the first annual Salt Lake Institute of Genealogy Colloquium, the final draft of the Genetic Genealogy Standards were officially announced and released!
The standards are the work of a wonderful group of people, and have been in the works for over a year (see “DNA Standards and Certification – A Response to an NGS Quarterly Editorial” and “Announcing the Creation of Genetic Genealogy Standards“). Thanks in large part to a very productive comment period in May and June of 2013 in which more than 75 comments were provided, the document has been fine-tuned and we believe it is an excellent source of guidelines.
There will be lots more to come, including guidelines for Y-DNA and mtDNA testing and interpretation, as well as some guidance for citing DNA test results in reports, scholarship, and in general. Stay Tuned!
UPDATE: AncestryDNA scientist Dr. Julie Granka posted about this new development at “AncestryDNA Scientists Achieve Advancement in Human Genome Reconstruction,” and here’s the YouTube video: “AncestryDNA Reconstructs Partial Genome of Person Living 200 Years Ago.”
I’ve written before about a poster presented by AncestryDNA at the American Society of Human Genetics 2013 annual meeting, entitled “Reconstruction of Ancestral Human Genomes from Genome-Wide DNA Matches,” and a poster presented at the 2014 meeting entitled “Reconstruction of ancestral human haplotypes using genetic and genealogical data.” In these posters, the scientists at AncestryDNA revealed their efforts to recreate portions of the genomes of an 18th century couple using sequencing information from hundreds of descendants.
My grandmother Jane died in 1984 when I was just 8 years old. I have some really great memories of her, faded with time but still filled with emotion. Bath times, spending time with her in the summer, newspaper hats, chrysanthemums.
However, in addition to those memories, she gave me a very unique genetic heritage. She was from a region of the world with a high degree of admixture, and thus it is from her that I obtained my Native American mtDNA, my Native American, African American, and Spanish autosomal DNA. It is an incredibly rich and fascinating genetic legacy.
In an attempt to learn more about my grandmother’s genetic heritage, I’m using GEDmatch’s new Lazarus tool to try to recreate as much of her genome as possible. Join me on the journey, and learn about this new tool.
I am incredibly honored to announce my election to the Board of Trustees of the New York Genealogical & Biographical Society! The NYG&B is the largest and oldest genealogical society in New York State, and the second oldest genealogical society in the nation. As a lifelong genealogist with New York roots dating back almost 250 years, joining the NYG&B is a dream come true for me.
Over the past decade, DNA has become a powerful tool for genealogical research. As a member of the NYG&B’s Board of Trustees, I hope to be able to help bridge the (ever-closing) gap between traditional genealogy and genetic genealogy, and help both members and non-members understand and incorporate DNA into their family histories.
The board represents an incredible group of people dedicated to helping people discovery their family histories, and I am so grateful to be able to join them. The full list is below.
If you’re serious about genetic genealogy, you’ve heard of GEDmatch. The third-party site is one of the few ways to compare testing results among the three testing companies. The site
However, since GEDmatch is run by two incredible volunteers (Curtis Rogers and John Olson) with full-time jobs, the site has experienced server issues and downtime. Many have lamented that there was no monetization plan in place, but gave donations in hope that it would help the site grow.
This week, GEDmatch announced a monetization strategy, namely advanced tools that are only available to Tier 1 members at a nominal cost of $10/month:
Basic GEDmatch programs remain free and we plan to keep them this way. Donations help cover the costs associated with running this site, and will provide you with the benefit of using the additional Tier 1 tools for a period of time equal to one month for every $10 donated. You may use the ‘Donate’ button below, for a one-time donation of any amount, or the ‘Join GEDmatch’ button to establish a recurring $10 per month amount.
In 2008, I wrote about the case of Mr. and Mrs. George Fry, who are believed to have brought a particularly negative mutation with them to the New World from Europe in 1630 (“A Single Colon Cancer Gene Traced to 1630 – The Future of Genetic Genealogy?“). The mutation – in the APC gene – increases the likelihood of colon cancer, and has been found in many of the Fry’s living descendants.
In this months’s issue of Nature Genetics (see “Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm“), researchers using the BALSAC Population Database traced a founder mutation in SGOL1, which causes Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome. So not only is it interesting that the same gene is involved in both heart rhythm and intestinal rhythm, but that the DNA has been mapped to this ancestral couple. The couple, whose names were not provided, were married in France in 1620 and arrived shortly thereafter in Nouvelle France.
A great resource from Jay Chandrakumar at Genetic Genealogy Tools (www.y-str.org) – SNPs extracted from sequenced ancient genomes and loaded into GEDmatch. Try out admixture tools with these GEDmatch profiles, but don’t expect many matches in One-to-Many!
Denisova – GEDMatch# F999903
Mezmaiskaya Neanderthal #1 – GEDMatch# F999909
Altai Neanderthal #2 – GEDMatch# F999902
Palaeo-Eskimo 2000 BC – GEDMatch# F999906
Clovis-Anzick – GEDMatch# F999912
For example, here’s the Palaeo-Eskimo 2000 BC (F999906) profile in MDLP K23b:
I’ve written before about a poster presented by AncestryDNA at the American Society of Human Genetics 2013 annual meeting, entitled “Reconstruction of Ancestral Human Genomes from Genome-Wide DNA Matches.” In the abstract, the group describes how they use sequencing information from hundreds of descendants of an 18th century couple to recreate portions of the genomes of that couple.
AncestryDNA’s 2014 ASHG Poster
The AncestryDNA group has continued to refine the process of reconstructing the genomes of ancestral couples, and has a poster in this year’s American Society of Human Genetics annual meeting:
Title: Reconstruction of ancestral human haplotypes using genetic and genealogical data.
Author(s): J. M. Granka, R. E. Curtis, K. Noto, Y. Wang, J. K. Byrnes, M. J. Barber, N. M. Myres, C. A. Ball, K. G. Chahine
This week in Vox, health reporter Julia Belluz (Twitter) wrote about genetic genealogy testing in “Genetic testing brings families together: And sometimes tears them apart.” The article focuses largely on testing company 23andMe, and presents the following thesis:
Direct-to-consumer DNA testing companies are revealing family secrets, many of which are emotionally damaging, without regard to those affected by the family secrets and without sufficient warning to the test-taker.
Unfortunately, rather than presenting a balanced view of the consequences of uncovering family secrets using DNA testing (and despite the title of the article), Belluz focuses only on examples of negative outcomes. The article is a perfect demonstration of “genetic exceptionalism,” the theory that genetic information is special and must therefore be treated differently from other types of information. Despite its many adherents, genetic exceptionalism is a theory without a logical underpinning.
Yesterday, Family Tree DNA , the genetic genealogy arm of Gene by Gene, announced that it has processed over 1,000,000 DNA test kits for genealogy and anthropology purposes. Congratulations!
There are several sales available at Family Tree DNA that you might want to take advantage of, including the following:
Family Finder is an autosomal DNA test that compares your DNA to the DNA of other users in the ever-growing Family Tree DNA database. You can also use your Family Finder raw data at an incredible array of third-party tools, including GEDmatch and DNAGedcom, among others.
Although the test is normally $99, each Family Finder test is now $79 until June 17, 2014
. The more family members you’ve tested and can compare your DNA to, the more information you’ll be able to glean from autosomal DNA. For example, I just had an aunt return her kit, and I’ll soon be able to compare her DNA to myself, my father, and her first cousin in order to answer even more of my family’s questions.