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Personal Genome Project Begins Releasing Information

image The Personal Genome Project (PGP) was established to analyze and publicly share the genomes and personal information of up to 100,000 volunteers in order to advance understanding of “genetic and environmental contributions to human traits and to improve our ability to diagnose, treat, and prevent illness.”  In the first phase of the PGP, ten volunteers (the “First 10″ – see information about the First 10 here on my blog and at the PGP website) have had their DNA analyzed and have given their personal information.

Last month, George Church, the PGP’s principal investigator, reported that the project expected to publish data about the First 10 on its website in mid- to late October.  Church might have meant genotype (i.e. sequencing) information, since some information about phenotype, health history, and medication has already been posted on the PGP website.  There is information about each of the 10 participants, although there is currently no active link to their genetic information:

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Identifying an Unknown Parent Using Genetic Genealogy

iStock_000007020771XSmall Last week, Randy Seaver of Genea-Musings posed a genetic genealogy question on his blog.  I posted a possible solution in the comments there, but I am asked this question regularly and thought I would discuss it here.

At a recent meeting that Randy attended, a woman in the audience asked the speaker:

“I don’t know who my father is. He and my mother had relations in Naples, Italy back in the 1950’s and I was born. I have no siblings. My mother did not tell me his name and there is no father’s name on my birth certificate. Can DNA research help me?”

This particular situation is exceptionally challenging.  If the child had been a boy, he would have his father’s Y-DNA and a decent chance at identifying his father’s surname (and thus could perhaps further elucidate his actual identity with the combination of DNA research and traditional genealogical research).  If the unknown parent had been the mother, the daughter would possess the unknown parent’s mtDNA and a remote but possible chance of finding an mtDNA match and using traditional genealogical techniques to identify the mother.

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The $1,000 Genome by the End of 2009?

On December 30th, 2007, I blogged the following:

“[A]ffordable whole-genome sequencing is getting closer and closer every day (my prediction – which is based solely on my own educated guess – is that I will be able to sequence my entire genome for $1,000 or less by the end of 2009).”

It was pretty bold at the time, and I’ve since wondered if I was too optimistic, but now comes news that at least one other person agrees with my prediction.  Harvard professor and genetics researcher George Church – also principal investigator for the Personal Genome Project (PGP) – stated at two conferences, one last week and one this week, that by mid-October of 2008, 36-fold coverage of the human genome will be available for $5,000.  Church went on to say that the $1,000 human genome will be available by the end of 2009.

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Follow-Up to 23andMe’s Price Drop

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Yesterday I wrote about 23andMe’s decision to lower their price to $399 (down from $999) while adding more genealogically-relevant SNPs and partnering with Ancestry.com.  Although I don’t have any further information about the new SNPs, I’ve seen a couple of interesting articles about the price drop around the blogosphere.

Aaron Rowe at Wired science writes “Human Genetics is Now a Viable Hobby.”  He notes that the new price is “well within the reach of cash-strapped grad students, frugal genealogy buffs and other not-so-early adopters.”  The comment thread is an interesting read as well.

“Cheap as chips”

Daniel MacArthur of Genetic Future writes “Cheap as chips: 23andMe slashes the price of personal genomics” at his new scienceblogs location.  Daniel also notes that the updated product “will certainly be popular with genetic genealogists” because of the addition of Y-DNA and mtDNA SNPs, and agrees with my hypothesis that other companies will follow suit and lower their prices.  Daniel also mentions the Personalized Medicine Collaborative (PMC) at the Coriell Institute for Medical Research, which is offering free personal genome scans to 10,000 individuals this year.

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In Memoriam – Leo William Little

Last week the genetic genealogy community lost one of its treasured members, Leo W. Little.

Leo’s passing was announced on the GENEALOGY-DNA mailing list on Sunday evening. Since then, many members of that mailing list, the ISOGG Yahoo Group, and the DNA- ANTHROGENEALOGY Yahoo Group have expressed their sympathy to Leo’s family and expressed their admiration for his work and contributions to the field of genetic genealogy.

Leo was the administrator of at least two DNA Projects, including the null439 DNA Project, and the Little DNA Project. The null439 group was begun by Leo after he helped characterize the “Little SNP” in 2002, a SNP that is also called “L1″ or “S26″. In 2005 Leo posted an email to the GENEALOGY-DNA that explained the discovery of the SNP, which defines the R1b1b2a1c Haplogroup in the new 2008 ISOGG Y-DNA Haplogroup Tree (previously known as R1b1c9a). The L1 SNP causes the primers used by Family Tree DNA to analyze Y-STR repeats at DYS439 to fail to anneal, and thus no result is recorded for that locus (i.e., it is “null”). The result is recorded as a default 12 with a blue asterisk. Here is Leo’s description from the null439 page:

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Reproducibility of SNP Testing, Part II

imageThe Quantified Self has a follow-up to last week’s post about the reproducibility of SNP testing by 23andMe and deCODEme using Illumina SNP chips (see the Quantified Self’s post and my post). In that post, it was revealed that two comparisons of the 560,000 overlapping SNP results from the two different companies had revealed differences of just 23 locations for one individual and 35 for another.

Soon after last week’s post, one of these individuals – Ann Turner – contacted The Quantified Self with new information that 4 of the SNPs on her list of 35 disagreeing results are also on the other person’s list of 23 disagreeing results (Antonio Oliveira). From Ann’s email to The Quantified Self:

Four of those (rs11149566, rs4458717, rs4660646, and rs754499) were also found in Antonio’s list. That’s more than you would expect by chance.

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5

The Genealogists

image Many people do not realize that the genetics of the future will rely heavily on the work done by previous, current, and future generations of genealogists. Researchers hoping to uncover links between a disease and a particular gene or mutation often recruit entire families or use compiled genealogical databases for information. Just a few of the recent examples of researchers benefiting from the work of genealogists include:

  1. Genizon BioSciences will examine genetic diseases using DNA from descendants of the Quebec Founder Population;
  2. A mutation believed to increase the risk of colon cancer was traced to a single family in the early 1600’s;
  3. A recent study pinpointing the mutation responsible for blue eyes used data from the Copenhagen Family Bank, and;
  4. Numerous studies published by deCODE, a company that uses an exclusive database of Icelandic genealogy (80% of all Icelandic people who have ever lived can be traced on family trees).

In honor of the contributions that genealogists have and will make to scientist’s understanding of the genetic basis of disease, and in honor of the many unique and well-written genealogy blogs, I created The Genealogists, a Feedburner network (subscribe via RSS here). The network, which helps unite genealogy bloggers and introduce new blogs to readers, currently has 18 members:

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An Announcement from the E3b Project

I received an email from Denis Savard of the E3b Project, asking me to post the following for my readers. For the non-genetic genealogists, E3b is a Y-DNA Haplogroup (info here). The E3b Project was also ISOGG’s “DNA Project Website-of-the-Week” 14 Nov 2007.

Here’s the announcement:

Dear Readers,

The worldwide E3b Project proudly announces a new milestone: reaching the 700 member mark.

Since its launch this past June, the E3b project’s website (http://www.haplozone.net/e3b/project) has been steadily growing and is gradually being transformed into a dynamic place of learning, collaboration and research for all things related to E3b.

Here are some of the new developments from the last couple of months:

+ The new V-Series SNP tests have proven very popular among our E-M78 subclade participants and we have been very successful in further dissecting the E3b1a subclade into several distinct and finer branches. So far, about 70% of M78+ participants have also tested V13

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Genetic Genealogy in the Classroom

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Forty advanced placement science students at Soldan International High School in St. Louis have submitted their DNA for testing with the National Geographic Society’s Genographic project. An article in the St. Louis-Post Dispatch highlights some of the statements made by the students and faculty:

“Many times students don’t see the relevance of what they’re learning,” said Assistant Principal Alice Manus, the Soldan project coordinator. “What they’re learning here will have all sorts of relevance because, really, we’re looking into their lives.”

One student, named John, had more reason to be excited about this test than most – his father died when he was only 13. “I never knew him that well,” said the Soldan sophomore. “Maybe this will tell me more about who he was and where he came from.”

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Sorenson Molecular Genealogy Foundation Collects Panamanian DNA

On the heels of last week’s announcement that Sorenson Molecular Genealogy Foundation (SMGF) will be collecting DNA samples in Mongolia comes new information that the company will be conducting a similar project in Panama.

According to the announcement, SMGF has partnered with the Gorgas Memorial Institute (Instituto Conmemorativo Gorgas de Estudios de la Salud Panama) and will attempt to collect 1,500 to 2,000 DNA samples with pedigree charts.The project will gather DNA from each of Panama’s nine provinces and three territories and will include individuals from all major ethnic groups, and from both urban and rural areas:

“We are honored to join with Gorgas Memorial Institute, Panama‘s primary institute for health and population studies, to study this country’s diverse, multi-faceted populations,” said Dr. Scott Woodward, executive director of the Sorenson Molecular Genealogy Foundation. “Panama is a fascinating melting pot, its genetic and cultural mix having been influenced by a broad array of Native American populations, Africans from the slave trade, and Europeans and Asians from multiple eras.”

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