A vast resource of allelic expression data spanning human tissues

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• dc.contributor.author Castel, Stephane E.
• dc.contributor.author Aguet, François
• dc.contributor.author Mohammadi, Pejman
• dc.contributor.author GTEx Consortium
• dc.contributor.author Ardlie, Kristin G.
• dc.contributor.author Lappalainen, Tuuli
• dc.date.accessioned 2020-10-06T05:59:39Z
• dc.date.available 2020-10-06T05:59:39Z
• dc.date.issued 2020
• dc.description.abstract Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of AE at the SNP level and 153 million measurements at the haplotype level. In addition, we develop an extension of our tool phASER that allows effect sizes of cis-regulatory variants to be estimated using haplotype-level AE data. This AE resource is the largest to date, and we are able to make haplotype-level data publicly available. We anticipate that the availability of this resource will enable future studies of regulatory variation across human tissues.
• dc.format.mimetype application/pdf
• dc.identifier.citation Castel SE, Aguet F, Mohammadi P; GTEx Consortium, Ardlie KG, Lappalainen T. A vast resource of allelic expression data spanning human tissues. Genome Biol. 2020; 21(1):234. DOI: 10.1186/s13059-020-02122-z
• dc.identifier.doi http://dx.doi.org/10.1186/s13059-020-02122-z
• dc.identifier.issn 1474-7596
• dc.identifier.uri http://hdl.handle.net/10230/45398
• dc.language.iso eng
• dc.publisher BioMed Central
• dc.relation.ispartof Genome Biol. 2020; 21(1):234
• dc.rights © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data ma
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword ASE
• dc.subject.keyword Allelic expression
• dc.subject.keyword Functional genomics
• dc.subject.keyword GTEx
• dc.subject.keyword Genomics
• dc.subject.keyword Regulatory variation
• dc.subject.keyword eQTL
• dc.title A vast resource of allelic expression data spanning human tissues
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion