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A vast resource of allelic expression data spanning human tissues

Author(s)
Hou, Lei; Kellis, Manolis; GTex Consortium
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Creative Commons Attribution 4.0 International license https://creativecommons.org/licenses/by/4.0/
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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.
Date issued
2020-09
URI
https://hdl.handle.net/1721.1/129456
Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory; Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Journal
Genome Biology
Publisher
Springer Science and Business Media LLC
Citation
Aguet, François et al. "A vast resource of allelic expression data spanning human tissues." Genome Biology 21, 1 (September 2020): 234 © 2020 The Author(s)
Version: Final published version
ISSN
1474-760X

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