The GTEx Consortium atlas of genetic regulatory effects across human tissues

• Type: Article in International Scientific Journal
• Date: 2020

Authors

The GTEx Consortium (Author) Other; Dias Ferreira, PG (Author) FCUP

Journal

Title: Science

Vol. 369

Pages: 1318-1330

ISSN: 0036-8075

Publisher: American Association for the Advancement of Science

Indexing

Scopus - 347 Citations

Other information

Authenticus ID: P-00S-W06

DOI: 10.1126/science.aaz1776

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific