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

on the human haplotype map developed by the International HapMap Project. The new map will provide genomic context surrounding the HapMaps 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 peoples 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 importance of these variants has become increasingly clear with surveys completed in the past 18 months that show these differences in genome structure may play a role in susceptibility to certain conditions, such as mental retardation and autism.

In addition to accelerating the search for genetic variants involved in susceptibility to common diseases, the map produced by the 1000 Genomes Project will provide a deeper understanding of human genetic variation and open the door to many other new findings of significance to both medicine and basic human biology.

The sequencing work will be carried out at the Sanger Institute, BGI Shenzhen and NHGRIs 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 consortium may add other participants over time.

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. However, leaders of the 1000 Genomes Project expect the costs to be far lower in the ran
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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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