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Knome Delivers First Genomic Sequencing

Knome, a personal genomics company that launched within the past year, has just delivered the first genomic sequencing to customers according to a report in the MIT Technology Review.

After paying $350,000 for sequencing, customers receive their genetic sequence on an 8-gigabyte USB drive in an engraved silver box.  The USB is encrypted and contains special genome browsing software.

For the first time in history, it is unclear how many complete human genomes have been sequenced by scientists.  Prior to Knome, we knew exactly how many had been completed.  Now, and probably ever after, genomes will be sequenced and analyzed without all the typical fanfare and press releases.  Instead of just 2 or 3 genomes, there will soon be tens of genomes, then hundreds, and then thousands.

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Interview with Forensic Genealogist Colleen Fitzpatrick, Ph.D. Part II

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Yesterday I posted the first part of a two-part interview with Colleen Fitpatrick, a forensic genealogist.  In that interview, we discussed Colleen’s participation in a project to identify the remains located at a military crash site from 1948.

Today, we discuss her work on identifying the Titanic’s Unknown Child, among other projects.

The Genetic Genealogist:  On April 17, 1912, two days after the RMS Titanic sank in the North Atlantic, the salvage vessel Mackay Bennett discovered the body of a young boy. The sailors paid for a monument, and the boy was buried in Fairview Lawn Cemetery in Halifax, Nova Scotia. In 2008, after an initial false identification based on dental records, the boy was identified as Sidney Leslie Goodwin. You were part of the team that identified Sidney. Can you tell us about that experience?

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Interview With Forensic Genealogist Colleen Fitzpatrick, Ph.D.

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Colleen Fitzpatrick, Ph.D. is one of the most recognizable names in the field of forensic genealogy.  She has authored two books entitled Forensic Genealogy and DNA & Genealogy, and continues to make headlines in this fascinating field.  Here is just an excerpt from her biography, located at her website:

“Colleen Fitzpatrick, Ph.D., is the author of two of the best-selling books in genealogy.  Forensic Genealogy has been widely recognized for its innovative forensic science approach to genealogical research.  She has been featured on NPR’s Talk of the Nation radio program (July 2005), and has written cover articles for Internet Genealogy (June 2006), Family Tree Magazine (April 2006) and Family Chronicle (October 2005).  Colleen writes a regular column for Ancestry magazine.”

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7

The Confucius Genealogy Compilation Committee Rejects DNA Testing

iStock_000002679865XSmallSee the new article at Seed Magazine “Inheriting Confucius,” which discusses efforts to generate a family tree containing the 2 million+ descendants of Confucius.

Kong De-Yong, a 77th(!) generation descendant of Confucius, has been compiling the tree for the last 10 years.  Although the Committee is accepting submissions from women and other previously excluded groups, it is not accepting DNA contributions.  According to the article, this “hints at the limits of Chinese engagement with the age of genomics, and demonstrates how high cultural stakes can constrain science.”  Unfortunately, as the author of the article suggests, many people might be afraid of the results of such DNA testing: “Given the potential implications of genetic knowledge for long-presumed members of the [Confucius] family, they think it better not to know.”

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2

Interesting News in the World of Genetic Genealogy

Genetic Genealogy

Technology Review, an MIT publication, has an article entitled “Genealogy Gets More Precise: Rapidly growing databases enable a more complete picture of one’s ancestry.“  The article, which is relatively balanced, discusses some of the benefits and challenges associated with genetic genealogy testing.

Also check out the article and video “Mapping Out a Nascent Market” at boston.com, which is directed towards personal genetic companies such as deCODEme, 23andMe, Navigenics, and Knome.

And lastly, scientists have sequenced and recreated the Neanderthal mtDNA genome.  For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon.  The original article is in Cell.  Turns out there are roughly 206 differences between the CRS (the Cambridge Reference Sequence, the mtDNA to which all human mtDNA is compared) and Neanderthal mtDNA; 195 transitions and 11 transversions.

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3

Genetic Genealogy Patents – A Brief Review

Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property.The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid.The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals.The UK IPO’s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious).Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and nonobvious.

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2

TGG Interview Series VIII – Max Blankfeld

image The eighth edition of the TGG Interview Series is with Max Blankfeld.  Max is Vice-President of Marketing and Operations at Family Tree DNA, one of the largest genetic genealogy companies in the world.  In addition, together with Bennett Greenspan, Max launched DNA Traits, a company that tests DNA for genetic diseases and inherited conditions.  Max is a frequent contributor to genetic genealogy mailing lists and has answered many people’s questions about testing, results, an the field in general.

From the “About” page at Family Tree DNA:

“Originally from Brazil, received his BBA from Fundação Getulio Vargas, and MBA from Rice University. While his first college education was in the field of Aeronautical Engineering, he gave it up to become a foreign correspondent. After that, he started and managed several successful ventures in the area of public relations as well as consumer goods both in Brazil and the US.”

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15

The Genetic Mess in California – A Round-Up, and My Thoughts

On June 9, 2008, the California Department of Public Health sent cease and desist letters to 13 companies that offer genetic testing. According to the letters, the companies are in violation of certain sections of the Business and Professions Code of California, including offering “a clinical laboratory test directly to the consumer without a physician order” since such tests “must be ordered by a physician or surgeon” (according to these officials). Copies of the letters are available here. The companies receiving letters are:

  • 23andMe
  • CGC Genetics
  • deCODEme Genetics
  • DNA Traits
  • Gene Essence
  • HairDX LLC
  • Knome
  • Navigenics
  • New Hope Medical
  • Salugen
  • Sciona Inc
  • Smart Genetics
  • Suracell Inc

I’m entering this discussion late, although I’ve been watching with great interest. What I’ve noticed is that much of the discussion, both in the blogosphere and the media, is confusing or ignoring the fact that there are actually two questions involved here.

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5

Complete Neanderthal Genome Sequenced – Differs from CRS at 133 Positions

iStock_000003743546XSmall GenomeWeb Daily News published a story on Friday entitled “En route to Neandertal Genome, Researchers Analyze Its Complete Mitochondrial Genome” which revealed the results of recent Neanderthal mtDNA analysis.

On Thursday May 9th, Svante Pääbo spoke at the Biology of Genomes meeting at Cold Spring Harbor Laboratory. Pääbo’s group, along with 454 Life Sciences, is currently engaged in a project to sequence the Neanderthal genome. The researchers have been able to sequence the complete Neanderthal mtDNA genome with 35-fold coverage. The genome is approximately 16 kilobases long and differs from the CRS at 133 positions. From what I’ve been able to find online, it doesn’t appear that the actual sequencing results have been released to the public. Given current estimates of mtDNA mutation rates, the number of differences between human and Neanderthal mtDNA suggests that the branches diverged approximately 600,000 years ago.

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3

Press Release From The Newly-Created DNA Fund

Last week I received a press release announcing the creation of a non-profit organization to raise and disseminate funds to increase original research in genetic genealogy testing (some of which will undoubtedly be reported in the open-source Journal of Genetic Genealogy). The DNA Fund also has a blog, available here. Following is the press release:

SALIDA, CA – The DNA Fund, (www.dnafund.org), a new non-profit organization has been established to fund DNA testing scholarships and grants for ancestral DNA studies. Currently in Phase 1 of the Fund’s launch, testing monies will be raised through fundraising affiliates. Scheduled for Phase 2, the Fund will accept donations and in Phase 3, coordinate grants for DNA projects and studies.

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