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:
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.
Judy Russell, the Legal Genealogist, noted on her blog today that registration for the Salt Lake Institute of Genealogy (“SLIG”) opens this Saturday, June 14th, at 9:00 AM Mountain Daylight Time (11 a.m. Eastern, 10 a.m. Central, and 8 a.m. Pacific).
Regular readers of The Genetic Genealogist may not be familiar with SLIG, which is an institute run by the Utah Genealogical Association. SLIG is one of a very limited number of week-long institutes that offer educational content for genealogists. SLIG 2015 will be held at the Hilton Salt Lake City Center Hotel in Salt Lake City, Utah on January 12-16, 2015. Tuition for the institute is $375 for UGA members and $425 for everyone else.
This year there are 12 tracks at SLIG, including two at which I will be an instructor:
Earlier this week, I had the opportunity to speak with Michael Leclerc at Mocavo about DNA, our genealogical beginnings, and so much more. Michael recorded our conversation, and it’s now available as this week’s Mocavo Fireside Chat!
If you’re curious about Y-DNA, mtDNA, or autosomal DNA, or have questions about DNA in general, I think you’ll enjoy this Fireside Chat. And be sure to check out the previous chats, it’s a lineup full of great guests!
What It Does: This Excel based tool sorts and groups your chromosome browser results from FTDNA into overlapping DNA sets and assigns the ICW status within the set. By following the paper “Combining Results from All Tests” , the tool can also be used to organize the output from all three testing services. You must have Excel to use this. A Mac Version is also available.
Directions: Full directions are found on a link with in the product interface on dnagedcom.com
Over the past few months, a group of genealogists and scientists has been working to draft a set of Genetic Genealogy Standards that can be used to guide genealogists and test-takers as they enter and explore the world of genetic genealogy. Importantly this document is not meant to be a manual, but instead is meant to function similarly to standards like the Genealogy Standards. From the preamble of the Standards:
This document is intended to provide ethical and usage standards for the genealogical community to follow when purchasing, recommending, sharing, or writing about the results of DNA testing for ancestry.
It is the responsibility of the test-taker to understand and consider these standards before ordering a test, and when reviewing or sharing their results. However, all genealogists who utilize or recommend DNA testing should: (1) review and understand these standards; (2) strive to meet and exceed these minimum standards; and (3) assist clients with understanding these standards.
Although they have not released any new big tools recently, 23andMe is constantly providing new ways for consumers to interact with the company and learn about genetics.
For example, over at Pinterest, 23andMe now has “What We’re Reading,” which is a great way to stay on top of the latest in the field of personal genomics. A number of my fellow genealogists have taken to using Pinterest both as a way to promote their business and as a way to share information or interests. Social media guru Thomas MacEntee has an article at Family Tree Magazine entitled “Using Pinterest for Genealogy Research,” and his own Presentations board, for example. Although I have a Pinterest presence, I haven’t yet used it for genealogy.