The 1000 Genomes Project, an international public-private consortium to build the most detailed map of human genetic variation to date, announces the completion of three pilot projects and the deposition of the final resulting data in freely available public databases for use by the research community. In addition, work has begun on the full-scale effort to build a public database containing information from the genomes of 2,500 people from 27 populations around the world.
Launched in 2008, the 1000 Genomes Project first conducted three pilot studies to test multiple strategies to produce a catalogue of genetic variants that are present in one percent or greater frequency in the different populations chosen for study (European, African and East Asian). Disease researchers will use the catalogue, which is being developed over the next two years, to study the contribution of genetic variation to illness. In addition to distributing the results on the Project's own web sites, the pilot data set is available via the Amazon Web services (AWS) computing cloud to enable anyone to access this unprecedentedly large data set, even if they do not have capacity to download it locally.
"I am indebted to all the project researchers who are making this collaboration so successful," said Richard Durbin, PhD, of the Wellcome Trust Sanger Institute, who is co-chair of the consortium. "In the pilot projects we have made significant progress in optimising the use of next generation sequencing platforms to study human genetic variation, and we can now apply what we have learned to accelerate our efforts to sequence this reference collection of human genomes."
"Completing the goals of the initial pilot projects has been critical to informing how to apply next-generation sequencing in human genetic research, and provides a solid foundation the next stage of the project," said David Altshuler, MD, PhD, of the Broad Institute, Cambridge, Massachusetts, and
|Contact: Don Powell|
Wellcome Trust Sanger Institute