A consortium, which includes Wellcome Trust Sanger Institute in Hinxton, England, the Beijing Genomics Institute, Shenzhen (BGI Shenzhen) in China and the National Human Genome Research Institute (NHGRI), announced today the 1000 Genomes Project.

The goal of the 1000 Genomes Project is to develop a new map of the human genome that will provide a view of biomedically relevant DNA variations at a resolution unmatched by current resources. Any two humans are more than 99 percent the same at the genetic level, but in order to explain individual differences in susceptibility to disease, response to drugs or reaction to environmental factors the scientists must understand the small fraction of genetic material that varies among people. Variation in the human genome is organized into local neighborhoods called haplotypes, which are stretches of DNA usually inherited as intact blocks of information.

Recently developed catalogs of human genetic variation, such as the HapMap, have proved valuable in human genetic research. Using the HapMap and related resources, researchers already have discovered more than 100 regions of the genome containing genetic variants that are associated with risk of common human diseases such as diabetes, coronary artery disease, prostate and breast cancer, rheumatoid arthritis, inflammatory bowel disease and age-related macular degeneration.

The 1000 Genomes Project builds on the human haplotype map developed by the International HapMap Project, but it will provide genomic context surrounding the HapMap’s genetic variants, giving researchers important clues to which variants might be causal, including more precise information on where to search for causal variants.

Going a major step beyond the HapMap, the 1000 Genomes Project will map not only the single-letter differences in people’s DNA, called single nucleotide polymorphisms (SNPs), but also will produce a high-resolution map of larger differences in genome structure called structural variants. Structural variants are rearrangements, deletions or duplications of segments of the human genome.

“The 1000 Genomes Project will examine the human genome at a level of detail that no one has done before,” said Richard Durbin, Ph.D., of the Wellcome Trust Sanger Institute, who is co-chair of the consortium. “Such a project would have been unthinkable only two years ago. Today, thanks to amazing strides in sequencing technology, bioinformatics and population genomics, it is now within our grasp. So we are moving forward to build a tool that will greatly expand and further accelerate efforts to find more of the genetic factors involved in human health and disease.”

The project aims to to produce 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. This will likely entail sequencing the genomes of at least 1,000 people. These people will be anonymous and will not have any medical information collected on them, because the project is developing a basic resource to provide information on genetic variation

Among the populations whose DNA will be sequenced in the 1000 Genomes Project are Yoruba in Ibadan, Nigeria, Japanese in Tokyo, Chinese in Beijing, Utah residents with ancestry from northern and western Europe and  Toscani in Italy.

One use of the new catalog will be to follow up genome-wide association studies. Investigators who find that a part of the genome is associated with a disease will be able to look it up in the catalog, and find almost all variants in that region. They will then be able to conduct functional studies to see whether any of the catalogued variants directly contribute to the disease.

The data generated by the 1000 Genomes Project will be held by and distributed from the European Bioinformatics Institute (EBI) and the National Center for Biotechnology Information (NCBI), which is part of NIH.