BETHESDA, Md.—An international research consortium has unveiled plans for the 1000 Genomes Project, an ambitious effort that will involve sequencing the genomes of at least 1,000 people from around the world to create the most detailed and medically useful picture to date of human genetic variation, giving scientists the opportunity to transform the genomic information into tools that medical researchers can use to understand common disease.

 

The detailed map of human genetic variation will be used by many researchers seeking to relate genetic variation to particular diseases.

 

Goals of the project include producing a catalog of 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. The catalog that is developed will be used by researchers in future studies of people with particular diseases.

 

The project will map the single-letter differences in people's DNA and will produce structural variants, providing a deeper understanding of human genetic variation and opening the door to many other new findings of significance to both medicine and basic human biology.

 

The project depends on large-scale implementation of several new sequencing platforms. Using standard DNA sequencing technologies, the effort would likely cost more than $500 million. Project leaders expect the costs to be lower—from $30 million to $50 million—because of the project's pioneering efforts to use new sequencing technologies.

 

The project will receive support from the Wellcome Trust Sanger Institute in Hinxton, England, the Beijing Genomics Institute, Shenzhen (BGI Shenzhen) in China and the NHGRI.

 

Sequencing work will be carried out at the Sanger Institute, BGI Shenzhen and National Human Genome Research Institute's (NHGRI) Large-Scale Sequencing Network, which includes the Broad Institute of MIT and Harvard; the Washington University Genome Sequencing Center at the Washington University School of Medicine in St. Louis; and the Human Genome Sequencing Center at the Baylor College of Medicine in Houston.

 

The data generated by the project will be held by and distributed from the European Bioinformatics Institute and the National Center for Biotechnology Information, which is part of NIH.