# The GTEx Consortium atlas of genetic regulatory effects across human tissues

## Author(s): GTEx Consortium

To refer to this page use: http://arks.princeton.edu/ark:/88435/pr1tz7h
DC FieldValueLanguage
dc.contributor.authorGTEx Consortium-
dc.date.accessioned2021-10-08T19:50:13Z-
dc.date.available2021-10-08T19:50:13Z-
dc.date.issued2020en_US
dc.identifier.citationGTEx Consortium. "The GTEx Consortium atlas of genetic regulatory effects across human tissues." Science 369, no. 6509 (2020): pp. 1318-1330. doi:10.1126/science.aaz1776en_US
dc.identifier.issn0036-8075-
dc.identifier.urihttps://www.biorxiv.org/content/10.1101/787903v1.full.pdf-
dc.identifier.urihttp://arks.princeton.edu/ark:/88435/pr1tz7h-
dc.description.abstractThe 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.en_US
dc.format.extent1318 - 1330en_US
dc.languageengen_US
dc.language.isoen_USen_US
dc.relation.ispartofScience (New York, N.Y.)en_US
dc.rightsAuthor's manuscripten_US
dc.titleThe GTEx Consortium atlas of genetic regulatory effects across human tissuesen_US
dc.typeJournal Articleen_US
dc.identifier.doi10.1126/science.aaz1776-
dc.identifier.eissn1095-9203-
pu.type.symplectichttp://www.symplectic.co.uk/publications/atom-terms/1.0/journal-articleen_US

Files in This Item:
File Description SizeFormat