The GTEx Consortium atlas of genetic regulatory effects across human tissues
By
François Aguet,
Alvaro N. Barbeira,
Rodrigo Bonazzola,
Andrew Brown,
Stephane E. Castel,
Brian Jo,
Silva Kasela,
Sarah Kim-Hellmuth,
Yanyu Liang,
Meritxell Oliva,
Princy E Parsana,
Elise Flynn,
Laure Fresard,
Eric R Gaamzon,
Andrew R Hamel,
Yuan He,
Farhad Hormozdiari,
Pejman Mohammadi,
Manuel Muñoz-Aguirre,
YoSon Park,
Ashis Saha,
Ayellet V Segrć,
Benjamin J. Strober,
Xiaoquan Wen,
Valentin Wucher,
Sayantan Das,
Diego Garrido-Martín,
Nicole R. Gay,
Robert E Handsaker,
Paul J. Hoffman,
Seva Kashin,
Alan Kwong,
Xiao Li,
Daniel G. MacArthur,
John M Rouhana,
Matthew Stephens,
Ellen Todres,
Ana Viñuela,
Gao Wang,
Yuxin Zou,
The GTEx Consortium,
Christopher D. Brown,
Nancy Cox,
Emmanouil Dermitzakis,
Barbara E Engelhardt,
Gad Getz,
Roderic Guigo,
Stephen B. Montgomery,
Barbara E. Stranger,
Hae K. Im,
A Battle,
Kristin G Ardlie,
Tuuli Lappalainen
Posted 03 Oct 2019
bioRxiv DOI: 10.1101/787903
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 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.
Download data
- Downloaded 6,690 times
- Download rankings, all-time:
- Site-wide: 480 out of 92,844
- In genetics: 40 out of 4,756
- Year to date:
- Site-wide: 431 out of 92,844
- Since beginning of last month:
- Site-wide: 637 out of 92,844
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!