4.8 Article

Estimating coverage and power for genetic association studies using near-complete variation data

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NATURE GENETICS
卷 40, 期 7, 页码 841-843

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NATURE PUBLISHING GROUP
DOI: 10.1038/ng.180

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  1. NHLBI NIH HHS [HL66682, HL66642] Funding Source: Medline

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Although studies suggest that SNPs derived from HapMap provide promising coverage and power for association studies, the lack of alternative variation datasets limits independent analysis. Using near-complete variation data for 76 genes resequenced in HapMap samples, we find that coverage of common variation by commercial genotyping arrays is substantially lower compared to the HapMap-based estimates. We quantify the power offered by these arrays for a range of disease models.

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