Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 77, Issue 3, Pages 337-345Publisher
CELL PRESS
DOI: 10.1086/432962
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Funding
- NCI NIH HHS [U01 CA074799] Funding Source: Medline
- NHGRI NIH HHS [P50 HG002790, 1P50 HG002790] Funding Source: Medline
- NIEHS NIH HHS [5P30 ES07048, P30 ES007048] Funding Source: Medline
- NATIONAL CANCER INSTITUTE [U01CA074799] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [P50HG002790] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [P30ES007048] Funding Source: NIH RePORTER
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With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000-1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design and analyze them. In April 2005, an international group of 1100 investigators convened at the University of Southern California over the course of 2 days to compare notes on planned or ongoing studies and to debate alternative technologies, study designs, and statistical methods. This report summarizes these discussions in the context of the relevant literature. A broad consensus emerged that the time was now ripe for launching such studies, and several common themes were identified-most notably the considerable efficiency gains of multistage sampling design, specifically those made by testing only a portion of the subjects with a high-density genomewide technology, followed by testing additional subjects and/or additional SNPs at regions identified by this initial scan.
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