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The GTEx Consortium atlas of genetic regulatory effects across human tissues

Authors :
Aguet, François
Barbeira, Alvaro N
Bonazzola, Rodrigo
Brown, Andrew
Castel, Stephane E
Jo, Brian
Kasela, Silva
Kim-Hellmuth, Sarah
Liang, Yanyu
Oliva, Meritxell
Parsana, Princy E
Flynn, Elise
Fresard, Laure
Gaamzon, Eric R
Hamel, Andrew R
He, Yuan
Hormozdiari, Farhad
Mohammadi, Pejman
Muñoz-Aguirre, Manuel
Park, YoSon
Saha, Ashis
Segrć, Ayellet V
Strober, Benjamin J
Wen, Xiaoquan
Wucher, Valentin
Das, Sayantan
Garrido-Martín, Diego
Gay, Nicole R
Handsaker, Robert E
Hoffman, Paul J
Kashin, Seva
Kwong, Alan
Li, Xiao
MacArthur, Daniel
Rouhana, John M
Stephens, Matthew
Todres, Ellen
Viñuela, Ana
Wang, Gao
Zou, Yuxin
Brown, Christopher D
Cox, Nancy
Dermitzakis, Emmanouil
Engelhardt, Barbara E
Getz, Gad
Guigo, Roderic
Montgomery, Stephen B
Stranger, Barbara E
Im, Hae Kyung
Battle, Alexis
Ardlie, Kristin G
Lappalainen, Tuuli
Universitat Politècnica de Catalunya. Doctorat en Estadística i Investigació Operativa
Source :
UPCommons. Portal del coneixement obert de la UPC, Universitat Politècnica de Catalunya (UPC)
Publication Year :
2019
Publisher :
Cold Spring Harbor Laboratory, 2019.

Abstract

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues, and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the v8 data, based on 17,382 RNA-sequencing samples from 54 tissues of 948 post-mortem donors. We comprehensively characterize genetic associations for gene expression and splicing incisandtrans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue-specificity of genetic effects, and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

Details

Database :
OpenAIRE
Journal :
UPCommons. Portal del coneixement obert de la UPC, Universitat Politècnica de Catalunya (UPC)
Accession number :
edsair.doi.dedup.....3333086f4684911982eeeb7898204697