In:
Genome Biology, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2021-05-06)
Abstract:
Trans -acting expression quantitative trait loci ( trans -eQTLs) account for ≥70 % expression heritability and could therefore facilitate uncovering mechanisms underlying the origination of complex diseases. Identifying trans -eQTLs is challenging because of small effect sizes, tissue specificity, and a severe multiple-testing burden. Tejaas predicts trans -eQTLs by performing L2-regularized “reverse” multiple regression of each SNP on all genes, aggregating evidence from many small trans -effects while being unaffected by the strong expression correlations. Combined with a novel unsupervised k-nearest neighbor method to remove confounders, Tejaas predicts 18851 unique trans -eQTLs across 49 tissues from GTEx. They are enriched in open chromatin, enhancers, and other regulatory regions. Many overlap with disease-associated SNPs, pointing to tissue-specific transcriptional regulation mechanisms.
Type of Medium:
Online Resource
ISSN:
1474-760X
DOI:
10.1186/s13059-021-02361-8
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2021
detail.hit.zdb_id:
2040529-7