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Testing for an unusual distribution of rare variants
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نویسنده
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neale b.m. ,rivas m.a. ,voight b.f. ,altshuler d. ,devlin b. ,orho-melander m. ,kathiresan s. ,purcell s.m. ,roeder k. ,daly m.j.
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منبع
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plos genetics - 2011 - دوره : 7 - شماره : 3
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چکیده
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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 the presence of this mixture of effects across a set of rare variants. unlike existing burden tests,c-alpha,by testing the variance rather than the mean,maintains consistent power when the target set contains both risk and protective variants. through simulations and analysis of case/control data,we demonstrate good power relative to existing methods that assess the burden of rare variants in individuals. © 2011 neale et al.
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آدرس
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the center for human genetic research,massachusetts general hospital,boston,ma,united states,the broad institute of harvard and mit,cambridge,ma, United States, the center for human genetic research,massachusetts general hospital,boston,ma,united states,the broad institute of harvard and mit,cambridge,ma, United States, the center for human genetic research,massachusetts general hospital,boston,ma,united states,the broad institute of harvard and mit,cambridge,ma, United States, the broad institute of harvard and mit,cambridge,ma,united states,department of genetics,harvard medical school,boston,ma,united states,department of molecular biology,massachusetts general hospital,boston,ma, United States, department of psychiatry,university of pittsburgh school of medicine,pittsburgh,pa, United States, department of clinical sciences malmö,diabetes and cardiovascular diseases,genetic epidemiology crc,university hospital malmö,malmö, Sweden, the center for human genetic research,massachusetts general hospital,boston,ma,united states,the broad institute of harvard and mit,cambridge,ma,united states,cardiovascular research center,massachusetts general hospital,boston,ma,united states,department of medicine,harvard medical school,boston,ma, United States, the broad institute of harvard and mit,cambridge,ma,united states,psychiatric and neurodevelopmental genetics unit,massachusetts general hospital,boston,ma, United States, department of statistics,carnegie mellon university,pittsburgh,pa, United States, the center for human genetic research,massachusetts general hospital,boston,ma,united states,the broad institute of harvard and mit,cambridge,ma, United States
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Authors
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