Submitted by ja607 on
Title | A vast resource of allelic expression data spanning human tissues. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | Castel, SE, Aguet, F, Mohammadi, P, Ardlie, KG, Lappalainen, T |
Corporate Authors | GTEx Consortium |
Journal | Genome Biol |
Volume | 21 |
Issue | 1 |
Pagination | 234 |
Date Published | 2020 Sep 11 |
ISSN | 1474-760X |
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. |
DOI | 10.1186/s13059-020-02122-z |
Alternate Journal | Genome Biol. |
PubMed ID | 32912332 |
PubMed Central ID | PMC7488534 |
Grant List | 1K99HG009916-01 / / 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 |