The GTEx Consortium atlas of genetic regulatory effects across human tissues
- François Aguet
- Shankara K. Anand
- Kristin Ardlie
- Stacey L. Gabriel
- Gad A. Getz
- Aaron P. Graubert
- Kane Hadley
- Robert E. Handsaker
- Katherine H Huang
- Seva Kashin
- Xiao Li
- Daniel G. MacArthur
- Samuel R. Meier
- Jared L. Nedzel
- Duyen T. Nguyen
- Ayellet V. Segrè
- Ellen Z. Todres
- Brunilda Balliu
- Alvaro Barbeira
- Alexis J. Battle
- Rodrigo Bonazzola
- Andrew Anand Brown
- Christopher Brown
- Stephane E. Castel
- Donald F. Conrad
- Daniel J. Cotter
- Nancy Jean Cox
- Sayantan Das
- Olivia M. de Goede
- Emmanouil T. Dermitzakis
- Jonah E. Einson
- Barbara E. Engelhardt
- Eleazar Eskin
- Tiffany Y. Eulalio
- Nicole M. Ferraro
- Elise D. Flynn
- Laure Frésard
- Eric R. Gamazon
- Diego Garrido-Martín
- Nicole R. Gay
- Michael J. Gloudemans
- Roderic Guigó
- Andrew R. Hame
- Yuan He
- Paul Hoffman
- Farhad Hormozdiari
- Lei Hou
- Hae Kyung Im
- Brian Jo
- Silva Kasela
- MKM Kellis
- Sarah Kim-Hellmuth
- Alan M. Kwong
- Tuuli Lappalainen
- Xin Li
- Yanyu Liang
- Serghei Mangul
- Pejman Mohammadi
- Stephen B. Montgomery
- Manuel Muñoz-Aguirre
- Daniel C. Nachun
- Andrew B. Nobel
- Meritxell Oliva
- YoSon Park
- Yongjin Park
- Princy Parsana
- Abhiram S. Rao
- Ferrán Reverter
- John M. Rouhana
- Chiara Sabatti
- Ashis Saha
- Matthew Stephens
- Barbara E. Stranger
- Benjamin J. Strober
- Nicole A. Teran
- Ana Viñuela
- Gao T. Wang
- Xiaoquan Wen
- Fred A. Wright
- Valentin Wucher
- Yuxin Zou
- Pedro Gabriel Ferreira
- Gen Li
- Marta Melé
- Esti Yeger‐Lotem
- Mary E. Barcus
- Debra Bradbury
- Tanya Krubit
- Jeffrey A. McLean
- Liqun Qi
- Karna Robinson
- Nancy Roche
- Anna Marie Smith
- Leslie H. Sobin
- David E. Tabor
- Anita H. Undale
- Jason P. Bridge
- Lori E. Brigham
- Barbara A. Foster
- Bryan M. Gillard
Science · 2020 · American Association for the Advancement of Science
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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.