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Medical News & Perspectives
December 17, 2008

1000 Genomes Project Promises Closer Look at Variation in Human Genome

JAMA. 2008;300(23):2715. doi:10.1001/jama.2008.823

A new, large-scale public science project is developing a more detailed picture of variations in the human genome that may one day aid scientists' understanding of the genetic basis of disease.

Building on the data and technology generated in previous “big science” projects, such as the Human Genome Project and the HapMap (an effort aimed at describing the common patterns of genetic variation in humans), investigators for the 1000 Genomes Project plan to develop an extensive catalog of variation in the human genome by sequencing the genomes of at least 1000 individuals from around the world. The project is being carried out by an international consortium of researchers, including scientists from the National Human Genome Research Institute in Bethesda, Md; the Wellcome Trust Sanger Institute in Hinxton, England, and the Beijing Genomics Institute in Shenzen, China. The first official data from the project will be released in January 2009, said David Altshuler, MD, PhD, cochair of the consortium and professor of genetics and medicine at Harvard Medical School in Boston, Mass.