Article
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
Nature genetics - 1 Jul 2018
Gamazon Eric R, Segrè Ayellet V, van de Bunt Martijn, Wen Xiaoquan, Xi Hualin S, Hormozdiari Farhad, Ongen Halit, Konkashbaev Anuar, Derks Eske M, Aguet François, Quan Jie, Nicolae Dan L, Eskin Eleazar, Kellis Manolis, Getz Gad, McCarthy Mark I, Dermitzakis Emmanouil T, Cox Nancy J, Ardlie Kristin G
Abstract excerpt
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale whole blood studies. Applying polygenic analyses to metabolic, cardiovascular, anthropometric,...
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