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3 sequencing companies join 1000 Genomes Project
Date:6/11/2008

and cost-effective manner than we could without their help."

The genetic blueprints, or genomes, of any two humans are more than 99 percent the same. Still, the small fraction of genetic material that varies among people holds valuable clues to individual differences in susceptibility to disease, response to drugs and sensitivity to environmental factors.

The 1000 Genomes Project builds upon the International HapMap Project, which produced a comprehensive catalog of human genetic variation variation that is organized into neighborhoods called haplotypes. The HapMap catalog laid the foundation for the recent explosion of genome-wide association studies that have identified more than 130 genetic variants linked to a wide range of common diseases, including type 2 diabetes, coronary artery disease, prostate and breast cancers, rheumatoid arthritis, inflammatory bowel disease and a number of mental illnesses.

The HapMap catalog, however, only identifies genetic variants that are present at a frequency of 5 percent or greater. The catalog produced by the 1000 Genomes Project will map many more details of the human genome and how it varies among individuals, identifying genetic variants that are present at a frequency of 1 percent across most of the genome and down to 0.5 percent or lower within genes. The 1000 Genomes Project's high-resolution catalog will serve to accelerate many future studies of people with specific illnesses.

"In some ways, this application of the new sequencing technologies is like building bigger telescopes," said NHGRI Director Francis S. Collins, M.D., Ph.D. "Just as astronomers see farther and more clearly into the universe with bigger telescopes, the results of the 1000 Genomes Project will give us greater resolution as we view our own genetic blueprint. We'll be able to see more things more clearly than before and that will be important for understanding the genetic contributions to health and illness."
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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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