A vast resource of allelic expression data spanning human tissues
Name
s13059-020-02122-z.pdf
Description
Published version
Size
1.01 MB
Format
Adobe PDF
Checksum (MD5)
cc5bd1bb09fbb8a4ac6a744548f7b60e
Author(s)
Hou, Lei
Kellis, Manolis
GTex Consortium
Date Issued
September 2020
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
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.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Terms of Use
Creative Commons Attribution 4.0 International license
Persistent DSpace Link
DOI of Published Version
http://dx.doi.org/10.1186/s13059-020-02122-z
