The GTEx Consortium atlas of genetic regulatory effects across human tissues

Cite

GTEx Consortium, 2020. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science, 369(6509), pp.1318-1330

https://doi.org/10.1126/science.aaz1776

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 version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, 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.

Datasets

1. Adult GTEx v10

Explore
Leiden clustering
Autolysis score
Code for BSS collection site
Tissue
Tissue subtype
Nucleic acid isolation
Batch ID
Assay
Subject ID
Sex
Age group
Death classification
Disease
Reference genome
Cluster 161,402 cells
Cluster 21,187 cells
Cluster 241,099 cells
Cluster 6974 cells
Cluster 5827 cells
Cluster 9818 cells
Cluster 14760 cells
Cluster 8720 cells
Cluster 7697 cells
Cluster 11684 cells
Cluster 3675 cells
Cluster 31669 cells
Cluster 34652 cells
Cluster 28631 cells
Cluster 21603 cells
Cluster 27569 cells
Cluster 4545 cells
Cluster 29531 cells
Cluster 10465 cells
Cluster 32453 cells
Cluster 1438 cells
Cluster 30418 cells
Cluster 23384 cells
Cluster 19365 cells
Cluster 26362 cells
Cluster 25343 cells
Cluster 18327 cells
Cluster 35313 cells
Cluster 20295 cells
Cluster 15287 cells
Cluster 33282 cells
Cluster 22277 cells
Cluster 13273 cells
Cluster 36182 cells
Cluster 17166 cells
Cluster 12115 cells
The GTEx Consortium atlas of genetic regulatory effects across human tissues