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International consortium announces the 1000 Genomes Project
Date:1/22/2008

echnologies and novel computational methods, we hope to give biomedical researchers a genome-wide map of variation down to the 1 percent level. This will change the way we carry out studies of genetic disease.

With current approaches, researchers can search for two types of genetic variants related to disease. The first type is very rare genetic variants that have a severe effect, such as the variants responsible for causing cystic fibrosis and Huntingtons disease. To find these rare variants, which typically affect fewer than one in 1,000 people, researchers often must spend years on studies involving affected families. However, most common diseases, such as diabetes and heart disease, are influenced by more common genetic variants. Most of these common variants have weak effects, perhaps increasing risk of a common condition by 25 percent or less. Recently, using a new approach known as a genome-wide association study, researchers have been able to search for these common variants.

Between these two types of genetic variants very rare and fairly common we have a significant gap in our knowledge. The 1000 Genomes Project is designed to fill that gap, which we anticipate will contain many important variants that are relevant to human health and disease, said David Altshuler, M.D., Ph.D., of Massachusetts General Hospital in Boston and the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University in Cambridge, Mass., who is the consortiums co-chair and was a leader of the HapMap Consortium.

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 1000 Genomes Project builds
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Contact: Geoff Spencer
spencerg@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
Source:Eurekalert

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