A vast resource of allelic expression data spanning human tissues

Genome Biol. 2020 Sep 11;21(1):234. doi: 10.1186/s13059-020-02122-z.

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.

Keywords: ASE; Allelic expression; Functional genomics; GTEx; Genomics; Regulatory variation; eQTL.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles*
  • Gene Expression*
  • Genome, Human*
  • Haplotypes
  • Humans
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, RNA