Genetic effects on gene expression across human tissues

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• dc.contributor.author Aguet, Françoisca
• dc.contributor.author Guigó Serra, Rodericca
• dc.contributor.author Montgomery, Stephen B.ca
• dc.contributor.author Genotype-Tissue Expression (GTEx) Consortiumca
• dc.date.accessioned 2018-03-19T14:33:39Z
• dc.date.available 2018-03-19T14:33:39Z
• dc.date.issued 2017
• dc.description.abstract Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.
• dc.format.mimetype application/pdf
• dc.identifier.citation François A, Guigó Serra R, Montgomery SB. Genetic effects on gene expression across human tissues. Nature. 2017;550(7675):204-13. DOI: 10.1038/nature24277
• dc.identifier.doi http://dx.doi.org/10.1038/nature24277
• dc.identifier.issn 0028-0836
• dc.identifier.uri http://hdl.handle.net/10230/34202
• dc.language.iso eng
• dc.publisher Nature Publishing Groupca
• dc.relation.ispartof Nature. 2017;550(7675):204-13
• dc.rights © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. This work is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) licence. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Gene regulation
• dc.subject.keyword Transcriptomics
• dc.title Genetic effects on gene expression across human tissuesca
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion