LD score regression distinguishes confounding from polygenicity in genome-wide association studies :

作者: Brendan K Bulik-Sullivan , , Po-Ru Loh , Hilary K Finucane , Stephan Ripke

DOI: 10.1038/NG.3211

关键词:

摘要: Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal bias. We have developed approach, LD Score regression, that quantifies the contribution each by examining relationship linkage disequilibrium (LD). The regression intercept be used to estimate more powerful accurate correction factor than genomic control. find strong evidence accounts for majority many GWAS large sample size.

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