Tuesday, 27 November 2012

Family Tree DNA Conference 2012 - citizen science comes of age

Each year in October or November Family Tree DNA host a conference in Houston, Texas, for their volunteer project administrators. The two-day programme includes a mixture of talks from FTDNA scientists, staff and project administrators. The conference is often the place where exciting new developments are announced. This year's conference, which took place from 10th to 11th November, was no exception. A number of the attendees were tweeting from the conference which enabled us to pick up most of the news as it happened. Twitter does not allow old tweets to be searched so you can no longer search for the #FTDNA2012 hashtag. You can, however, access the tweets from the accounts of the individual users: @ancestryjourney @Smitty327 @TrevorRix @khborges @CeCeLMoore @Genealem @RichardHillDNA @RobertaJEstes ‏@winincentive @Greenleafy and @spwells.

The big news from the conference was the announcement of the new Y-DNA haplogroup A00 in a joint presentation by Bonnie Schrack, Thomas Krahn and Michael Hammer which was unassumingly entitled "In Search of the Root: Discovery of a Highly Divergent Y-chromosome Lineage". The new haplogroup A00 is now the oldest and deepest-rooted branch of the human Y-DNA tree and is thought to date back about 338,000 years, making Y-Adam much older than mitochondrial Eve, who dates back around 200,000 years. Earlier studies had suggested that Y-chromosomal Adam, the common patrilineal ancestor of all males alive today, lived around 142,000 years ago. The new date for the root of the Y-tree now takes us back into uncharted territory because the earliest example of an anatomically modern human from the fossil record dates back only 196,000 years ago. However, the most astonishing aspect of this discovery is that it came about not because of the research of university scientists but from the hard work and dedication of an amateur genetic genealogist, Bonnie Schrack, who became involved in the world of DNA testing through her genealogical research and a simple desire to learn more about her roots. Bonnie is the volunteer project administrator of the haplogroup A project at Family Tree DNA, a job which she does in her spare time. Bonnie galvanised the support of her project members and the wider genetic genealogy community to arrange for some tests to be done on selected members of the haplogroup A project as part of FTDNA's Walk through the Y programme. Funding for the WTY tests was provided not from academic research grants but by members of the genetic genealogy community from around the world. Stan Pietrzak from Poland has been one of the project's most generous and enthusiastic supporters. Thomas Krahn, who heads up Family Tree DNA's Genomics Research Center in Houston, is in charge of the WTY programme. He and his wife Astrid were reportedly up all night doing the landmark WTY test, scoring more and more markers with a growing sense of disbelief before they finally realised what an amazing discovery had been made. Dr Michael Hammer, FTDNA's Chief Scientist, who has his own laboratory at the University of Arizona, then became involved when the momentous nature of the discovery was realised. In order to determine the placement of the new SNPs on the Y-tree Thomas went on to do WTY tests on samples from a chimp and a gorilla, and also analysed gorilla and chimp Y-STR markers. The person whose sample was used in the WTY project is a gentleman from South Carolina who is descended from a former slave. Little did he know when he agreed to take the test to help with his family history research that he would be making history! Further information on the new haplogroup A00 can be found in the following blog posts and websites:

The Y haplogroup A website, a new website from Bonnie Schrack which includes links to the slides from her talk at the conference as well as her speaking notes
The new root - haplogroup A00 by Roberta Estes
Your paternal line just got much longer by Dave Dowell
A00 on the Y haplogroup tree: a new view of African origins from a Y-chromosome perspective Thomas Krahn's very technical slides for his presentation at the FTDNA conference. This presentation includes links to the Ysearch IDs for the gorilla and chimp Y-STRs (25 markers) and the haplogroup A00 Y-STR signature (94 markers)
Walk through the Y project Thomas Krahn's WTY presentation from FTDNA 2012
A00 at FTDNA 2012: history in the making? A blog post from Dienekes Pontikos
Haplogroups A and the top of the modern human tree a diagram from Stan Pietrzak

A scientific paper is in preparation and will be published in the near future. These findings beg the question as to what other discoveries are waiting to be made. The world population is now over seven billion. Family Tree DNA have the world's largest Y-DNA database with almost 250,000 Y-DNA results from around the world, yet this represents just a tiny fraction of the total male population. I am sure there will be many more exciting discoveries to be made in the years to come as more people get their DNA tested.

The other big news from the FTDNA conference was the announcement that FTDNA's parent company has undergone a major restructuring and is now known as GenebyGene with four separate divisions: Family Tree DNA for genetic genealogy; DNA Traits for health tests; DNADTC for research-use genetic tests; and DNAFindings for paternity testing. The research arm DNADTC is now offering complete genome sequencing, and they are the first commercial company to do so. The test costs $5495 with a minimum order of three tests. No data analysis is provided. The test is not targeted at the consumer market but, as the price of sequencing drops, it cannot be too long before complete genome sequencing becomes a reality at an affordable price for the genetic genealogist, though data processing, analysis and interpretation will be a challenge.

A number of conference attendees have blogged about their experiences. Each blogger brings a slightly different perspective and all the posts are well worth reading:

-  8th Annual Conference on Genetic Genealogy - Day 1 by Jennifer Zinck
-  8th Annual Conference on Genetic Genealogy - Day 2 by Jennifer Zinck
-  Family Tree DNA Conference: Nits and Grits by Roberta Estes
-  Family Tree DNA's 8th International Conference on Genetic Genealogy Day I by Emily Aulicinio
-  Family Tree DNA's 8th International Conference on Genetic Genealogy Day 2 by Emily Aulicinio
-  FTDNA 2012: Geno 2.0 and more by Judy Russell
-  Native American Focus Meeting by Roberta Estes
-  Photos from FTDNA 2012 from Trevor Rix
-  A visit to Family Tree DNA's state-of-the-art lab by CeCe Moore

I would like to thank everyone who tweeted and blogged from the conference. It made all the difference to those of who could not attend in person. If I've missed any links do let me know and I will update this blog post accordingly.

This post was originally written on 27th November 2012 but was embargoed for publication until 28th February 2013 when the paper on the new root of the Y-tree was published in the American Journal of Human Genetics: http://www.sciencedirect.com/science/article/pii/S0002929713000736

© 2012-2013 Debbie Kennett


Vince T. said...

Since this blog was published, Gene By Gene's DNA-DTC branch currently quotes $6,995.00 US for full sequences, a price increase of over 27%. http://www.dnadtc.com/products.aspx

This historical paper is available for purchase at http://www.sciencedirect.com/science/article/pii/S0002929713000736

I was a bit surprised to see Bonnie's affiliation listed with FTDNA, and not as an "independent researcher".

Debbie Kennett said...


Thanks for pointing out the price increase on the full sequence test. I hadn't realised the price had gone up quite so much.

I was also surprised to see Bonnie listed with FTDNA rather than as an independent researcher.