A vast resource of allelic expression data spanning human tissues.

TitleA vast resource of allelic expression data spanning human tissues.
Publication TypeJournal Article
Year of Publication2020
AuthorsCastel, SE, Aguet, F, Mohammadi, P, Ardlie, KG, Lappalainen, T
Corporate AuthorsGTEx Consortium
JournalGenome Biol
Volume21
Issue1
Pagination234
Date Published2020 Sep 11
ISSN1474-760X
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.

DOI10.1186/s13059-020-02122-z
Alternate JournalGenome Biol.
PubMed ID32912332
PubMed Central IDPMC7488534
Grant List1K99HG009916-01 / / National Human Genome Research Institute (US) /
R01GM122924 / GM / NIGMS NIH HHS / United States
R01MH101814 / MH / NIMH NIH HHS / United States
R01MH106842 / MH / NIMH NIH HHS / United States
UM1HG008901 / NH / NIH HHS / United States
1U24DK112331 / NH / NIH HHS / United States
UL1TR002550-01 / NH / NIH HHS / United States
5UL1 TR001114-05 / NH / NIH HHS / United States