Abundant associations with gene expression complicate GWAS follow-up

With increasing cohort size and phenotyping, GWAS have identified more than 70,000 associated variants1. Because as many as 90% of GWAS variants fall within non-coding regions, most of them have unknown functional importance2. [...]LocusCompare integrates eQTLs from 48 tissues in the GTEx study (ver...

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Published in:Nature genetics Vol. 51; no. 5; pp. 768 - 769
Main Authors: Liu, Boxiang, Gloudemans, Michael J., Rao, Abhiram S., Ingelsson, Erik, Montgomery, Stephen B.
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.05.2019
Nature Publishing Group
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ISSN:1061-4036, 1546-1718, 1546-1718
Online Access:Get full text
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Summary:With increasing cohort size and phenotyping, GWAS have identified more than 70,000 associated variants1. Because as many as 90% of GWAS variants fall within non-coding regions, most of them have unknown functional importance2. [...]LocusCompare integrates eQTLs from 48 tissues in the GTEx study (version 7)3; eQTLs and splicing QTLs from coronary artery smooth muscle cells9 and retinal pigment epithelial cells10; and methylation QTLs from brain tissues11,12 and whole blood13. 'Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA. 6Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA. 7Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA.8Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. 9
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B.L. and S.B.M. designed the study. B.L., M.J.G. and A.S.R. performed analyses. E.I. provided study support and feedback. B.L., M.J.G. and S.B.M. wrote the paper. B.L. and M.J.G. contributed equally to this work.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/s41588-019-0404-0