The paper from the 1000 genomes consortium has been published
yesterday on Nature. It is not yet in pubmed, but you can read the
In the early 2000, the genome of the first human individual was published. It was a major advance, because it permitted to study the structure of our genomes, identify where genes and non coding regions were, etc.
However, the draft published in 2000 was relative to a single individual, or a mix of few. But what about the differences between two individuals? If I sequence my genome and yours, what kind of differences can we expect to find? Is the genome of a person with deep African ancestry different from the one of someone with European origins? It is very important to know these differences, to predict how different persons can react to a drug or to an environment.
So, as explained in the article, 1000 genomes is a project to sequence the genome of about 2,500 individuals. The availability of these sequences will make it possible to study the differences between genomes of different persons. The data has been partly available publicly long time before the publication of the paper: however, now it will be possible to use it for publishing results in a peer-review journal. I expect a lot of publication in the following months, as a lot of laboratories have already carried out their analysis and were waiting for the publication of this paper to submit.
These should be the links to the papers:
- The 1000genomes consortium: 1000 Genomes Project reveals human variation
- Nielsen, R. Genomics: In search of rare human variants
Notice that this is one of the first times in history that Nature has published a paper under a free-access license.