Article
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
Nature communications - 8 May 2018
Barbeira Alvaro N, Dickinson Scott P, Bonazzola Rodrigo, Zheng Jiamao, Wheeler Heather E, Torres Jason M, Torstenson Eric S, Shah Kaanan P, Garcia Tzintzuni, Edwards Todd L, Stahl Eli A, Huckins Laura M, Nicolae Dan L, Cox Nancy J, Im Hae Kyung
Abstract excerpt
Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy and general robustness to misspecified reference sets. We apply this framework to 44 GTEx tissues and 100+ phenotypes from GWAS and meta-analysis studies,...
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