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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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

Genome Biology, 2021-01, Vol.22 (1), p.49-49, Article 49 [Periódico revisado por pares]

England: BioMed Central

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Título:
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
Autor: 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
Assuntos: Consortia ; Datasets ; Disease ; Gene Expression ; Genes ; Genetic Predisposition to Disease - genetics ; Genome-wide association studies ; Genome-Wide Association Study - methods ; Genomes ; Genotype ; Humans ; Hypotheses ; Multifactorial Inheritance ; Random variables ; Ribonucleic acid ; RNA ; Transcriptome ; Transcriptomes
É parte de: Genome Biology, 2021-01, Vol.22 (1), p.49-49, Article 49
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: 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 framework to benchmark methods that prioritize causal genes and find no single approach outperforms the combination of multiple approaches. Using colocalization and association approaches that take into account the observed allelic heterogeneity of gene expression, we propose potential target genes for 47% (2519 out of 5385) of the GWAS loci examined.
Editor: England: BioMed Central
Idioma: Inglês

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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

England: BioMed Central

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