Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
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ABSTRACT:
SUBMITTER: Barbeira AN
PROVIDER: S-EPMC7836161 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Publications
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
Barbeira Alvaro N AN Bonazzola Rodrigo R Gamazon Eric R ER Liang Yanyu Y Park YoSon Y Kim-Hellmuth Sarah S Wang Gao G Jiang Zhuoxun Z Zhou Dan D Hormozdiari Farhad F Liu Boxiang B Rao Abhiram A Hamel Andrew R AR Pividori Milton D MD Aguet François F Bastarache Lisa L Jordan Daniel M DM Verbanck Marie M Do Ron R Stephens Matthew M Ardlie Kristin K McCarthy Mark M Montgomery Stephen B SB Segrè Ayellet V AV Brown Christopher D CD Lappalainen Tuuli T Wen Xiaoquan X Im Hae Kyung HK
Genome biology 20210126 1
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a blueprint for the functional interpretation of genome-wide association study-discovered loci. Across a broad set of complex traits and diseases, we demonstrate widespread dose-dependent effects of RNA expression and splicing. We develop a data-driven ...[more]
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