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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Vydáno v:	Nature genetics Ročník 51; číslo 5; s. 768 - 769
Hlavní autoři:	Liu, Boxiang, Gloudemans, Michael J., Rao, Abhiram S., Ingelsson, Erik, Montgomery, Stephen B.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	New York Nature Publishing Group US 01.05.2019 Nature Publishing Group
Témata:	38 38/91 45 45/43 631/114 631/208/191 631/208/205 692/308/2056 Agriculture Animal Genetics and Genomics Bioengineering Bioinformatics Biomedical and Life Sciences Biomedicine Brain Cancer Research Cardiovascular agents Cardiovascular disease Coronary artery Coronary vessels Correspondence Databases, Genetic Datasets Diabetes mellitus Diabetes research False Positive Reactions Follow-Up Studies Gene Expression Gene Function Genetic research Genetics Genome-wide association studies Genome-Wide Association Study - statistics & numerical data Genomics Human Genetics Humans Hypotheses Management Medical schools Medicine Methods Methylation Muscles Phenotyping Polymorphism, Single Nucleotide Quantitative Trait Loci Retina Smooth muscle Software Splicing Studies Visualization
ISSN:	1061-4036, 1546-1718, 1546-1718
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Shrnutí:	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
Bibliografie:	SourceType-Scholarly Journals-1 ObjectType-Correspondence-2 content type line 14 ObjectType-Letter to the Editor-1 ObjectType-Article-2 ObjectType-Correspondence-1 content type line 23 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. Author contributions
ISSN:	1061-4036 1546-1718 1546-1718
DOI:	10.1038/s41588-019-0404-0