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Consortium publishes Phase II map of human genetic variation
Date:10/17/2007

results have opened up new avenues of research, taking us to places we had not imagined in our search for better ways to diagnose, treat and prevent disease.

The second-generation haplotype map, or Phase II HapMap, contains more than 3.1 million genetic variants, called single nucleotide polymorphisms (SNPs) three times more than the approximately 1 million SNPs contained in the initial version. The more SNPs that are on the map, the more precisely researchers can focus their hunts for genetic variants involved in disease. The rapid growth of genome-wide association studies over the past year and half has been fueled by the HapMap consortiums decision to make its SNP datasets immediately available in public databases, even before the first and the second versions of the map were fully completed.

Researchers around the globe have now associated more than 60 common DNA variants with risk of disease or related traits, with most of the findings coming in the past nine months. As just one example, the Wellcome Trust consortium in England looked at 14,000 cases and 3,000 shared controls, finding variants associated with increased risk of bipolar disorder, coronary artery disease, Crohn's disease, rheumatoid arthritis, type 1 diabetes and type 2 diabetes.

We are thrilled that the worldwide scientific community is taking advantage of this powerful new tool and we anticipate even more exciting findings in the future. The improved SNP coverage offered by the Phase II HapMap, along with better statistical methods, promises to further increase the accuracy and reliability of genome-wide association studies, said Gil McVean, Ph.D., of the University of Oxford in England, who co-led the group that analyzed the HapMap data.

Another analysis leader, Mark Daly, Ph.D., of Massachusetts General Hospital and the Broad Institute of MIT and Harvard in Cambridge, Mass., said, "In addition to providing a critical backbone for standard genome-wide as
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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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