Testing for an unusual distribution of rare variants.
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ABSTRACT:
SUBMITTER: Neale BM
PROVIDER: S-EPMC3048375 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Publications
Testing for an unusual distribution of rare variants.
Neale Benjamin M BM Rivas Manuel A MA Voight Benjamin F BF Altshuler David D Devlin Bernie B Orho-Melander Marju M Kathiresan Sekar S Purcell Shaun M SM Roeder Kathryn K Daly Mark J MJ
PLoS genetics 20110303 3
Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the influence of very rare variants can only be evaluated effectively as a group. A further complication is that any given rare variant could have no effect, could increase risk, or could be protective. We propose here the C-alpha test statistic as a novel approach for testing for ...[more]
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