Article
Weighting sequence variants based on their annotation increases power of whole-genome association studies.
Nature genetics - 1 Mar 2016
Sveinbjornsson Gardar, Albrechtsen Anders, Zink Florian, Gudjonsson Sigurjón A, Oddson Asmundur, Másson Gísli, Holm Hilma, Kong Augustine, Thorsteinsdottir Unnur, Sulem Patrick, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
The consensus approach to genome-wide association studies (GWAS) has been to assign equal prior probability of association to all sequence variants tested. However, some sequence variants, such as loss-of-function and missense variants, are more likely than others to affect protein function and are therefore more likely to be causative. Using data from whole-genome sequencing of 2,636 Icelanders and the...
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