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.Â 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.Â Church went on to say that the $1,000 human genome will be available by the end of 2009.
For more information about Church’s statements, see “PGP to Publish Initial Data Sets Next Month As Church Predicts $1,000 Genome in 2009” (registration required) at In Sequence, and a blog post by John Moore of Chilmark Research who attended a “Personal Genomics” session at this year’s EmTech … Click to read more!
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.Â 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.”Â 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.”Â 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.Â Daniel also notes that the updated product “will certainly be popular with genetic genealogists” because of the addition of … Click to read more!
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 … Click to read more!
The 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.
Interesting results, and as Kelly at TGS points out, “This is why sharing results is so … Click to read more!
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:
- Genizon BioSciences will examine genetic diseases using DNA from descendants of the Quebec Founder Population;
- A mutation believed to increase the risk of colon cancer was traced to a single family in the early 1600′s;
- A recent study pinpointing the mutation responsible for blue eyes used data from the Copenhagen Family Bank, and;
- 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 … Click to read more!
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:
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 … Click to read more!
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.”
I think this is a great way to introduce students to issues associated with genomic sequencing including the science, the societal impact, and the ethical issues. I do wonder, however, how the class afforded the testing. … Click to read more!
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 Panamaâ€™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 … Click to read more!
Dr. Wilmot James, head of the African Genome Project and honorary professor of human genetics at the University of Cape Town, is heading a DNA collection project in South Africa. Dr. James is joined by his colleague Himla Soodyall, a scientist at the National Health Laboratory Service and an associate professor in the Division of Human Genetics at the University of Witwatersrand. On September 9th, James and Soodyall collected swab samples from a number of Capetonians.
The African Genome Project is supported by the South African genealogy website Ancestry24.com (although I was not able to find any information there). One of the goals of the project is to create a public genetic database to examine â€œhow the country became populated over thousands of … Click to read more!
23andMe has been the subject of much discussion in the biotech and personalized medicine circles of the blogosphere (See here, here, here, here, here, here, here, and here for plenty of information/speculation/discussion).
In August, 23andMe announced (â€œ23andMe and Illumina Forge Consumer Genomics Goliathâ€) that they have partnered together to offer â€œconsumer genotypingâ€ – more about that in a minute. Illumina produces â€œSNP chipsâ€, chips that can test a genome for thousands of SNPs (single nucleotide polymorphisms) at a time. For example, the company has one chip that tests one million SNPs for as little as $600, and another chip that tests 550,000 SNPs (the HumanHap550) for only $300-$450. Interestingly, Illumina is also able to custom build chips to add specific SNPs if the customer so desires. Additionally, as the announcement … Click to read more!