The 1000 Genomes Project is an ambitious international venture, launched back in January, that seeks to leverage advances in DNA sequencing technology to create a map of human genetic variation with unprecedented resolution.
The formal scientific goal of the project is "to produce a catalog of [genetic] variants that are present at 1 percent or greater frequency in the human population across most of the genome, and down to 0.5 percent or lower within genes". This will involve the generation of mind-boggling amounts of sequence data: according to Paul Flicek from the European Bioinformatics Institute, who has been coordinating data storage and transfer for the project, the final data-set will probably take up close to 1 Pb (i.e. one million gigabytes)!
The scale of this project has only become feasible over the last year or two with the appearance of so-called "next-generation" sequencing platforms: new technologies that are capable of reading billions of bases of DNA in a single run, over just a few days. Although the field is rapidly heating up, right now there are three commercial platforms in the market: the 454 system provided by Roche, Applied Biosystem's SOLiD technology, and Illumina's Genome Analyzer (previously known as Solexa). Each of the platforms has its positive and negative points, but those aren't relevant for this post: suffice it to say that there is currently a serious arms race between these three products, with each of the respective companies eyeing the lucrative medical sequencing market just around the corner.
This arms race appears to be great news for the 1000 Genomes Project. As an Applied Biosystems press release spells out today, the major companies are literally giving away sequencing capacity to the Project in return for product exposure - all three of them have now committed to sequencing 75 billion bases, the equivalent of sequencing a complete human genome 25 times over. In the press release, Project steering committee co-chair Richard Durbin says:
"It is a win-win arrangement for all involved. The companies will gain an exciting opportunity to test their technologies on hundreds of samples of human DNA, and the project will obtain data and insight to achieve its goals in a more efficient and cost-effective manner than we could without their help."
The stakes are extremely high here. Involvement in the 1000 Genomes Project gives these companies an opportunity to prove their technology to the researchers in major sequencing facilities who will ultimately be some of their biggest customers, while at the same time providing some valuable public relations stories - Illumina got some good coverage with their "first African genome" back in February, for instance. The platforms that can prove themselves early in the game will have a serious edge over later competitors, simply by being well-established in the large facilities by the time young upstarts like Pacific Biosciences even have a product on the market. And when you think about just how much money there will be in the medical sequencing business within the next few years, Durbin's "exciting opportunity" starts to seem like classic British understatement.
Anyway, you can expect things to get pretty serious over the next few months, as the involvement of all three of the platforms in the 1000 Genomes Project (both as providers of free sequence, and in terms of machines in the participating facilities) provides a level playing field for comparing the throughput, accuracy, ease of use and running costs of the three competitors, engaged in the sequencing activity that matters the most right now: assembling entire genomes from human beings, as cheaply, accurately and quickly as possible.
Meanwhile, those of us interested in personal genomics get to sit back and watch the fireworks, knowing that it doesn't really matter who wins this race - so long as it's being run, our genome sequences are becoming steadily more affordable.
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