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Article

Partitioning heritability by functional annotation using genome-wide association summary statistics.

Nature genetics - 1 Nov 2015

Finucane Hilary K, Bulik-Sullivan Brendan, Gusev Alexander, Trynka Gosia, Reshef Yakir, Loh Po-Ru, Anttila Verneri, Xu Han, Zang Chongzhi, Farh Kyle, Ripke Stephan, Day Felix R, Purcell Shaun, Stahl Eli, Lindstrom Sara, Perry John R B, Okada Yukinori, Raychaudhuri Soumya, Daly Mark J, Patterson Nick, Neale Benjamin M, Price Alkes L

Abstract excerpt

Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here we analyze a broad set of functional elements, including cell type-specific elements, to estimate their polygenic contributions to heritability in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To...

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PMID: 26414678
DOI: 10.1038/ng.3404
PMCID: PMC4626285

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