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Pharmacogenomics. 2009 Feb;10(2):235-41. doi: 10.2217/14622416.10.2.235.

Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics.

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  • 1National Human Genome Research Institute, Building 31, Room 4B-09, 31 Center Drive, MSC 2154, Bethesda, MD 20892-2154, USA.


In the past 3 years, genome-wide association (GWA) studies have revolutionized the discovery of genetic variants associated with complex diseases. These studies present unique challenges in their conduct; particularly in the need for meticulous quality control of genotyping and for sample sizes large enough to withstand the severe penalty for multiple comparisons necessitated by testing hundreds of thousands of SNPs. They also present unique opportunities in the unprecedented detail with which they characterize an individual's genome and the potential for relating that information to any trait consistent with that person's informed consent. Such data exceed the abilities of any single group of investigators to mine them fully and by NIH policy are distributed to qualified investigators agreeing to specified terms of use. This report describes collaborative programs of the National Human Genome Research Institute's Office of Population Genomics for facilitating collection, analysis, interpretation, and dissemination of these data so that their research value can be maximized.

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