Article
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
Genome biology - 26 Jan 2021
Barbeira Alvaro N, Bonazzola Rodrigo, Gamazon Eric R, Liang Yanyu, Park YoSon, Kim-Hellmuth Sarah, Wang Gao, Jiang Zhuoxun, Zhou Dan, Hormozdiari Farhad, Liu Boxiang, Rao Abhiram, Hamel Andrew R, Pividori Milton D, Aguet François, Bastarache Lisa, Jordan Daniel M, Verbanck Marie, Do Ron, Stephens Matthew, Ardlie Kristin, McCarthy Mark, Montgomery Stephen B, Segrè Ayellet V, Brown Christopher D, Lappalainen Tuuli, Wen Xiaoquan, Im Hae Kyung
Abstract excerpt
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...
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