Rxivist logo

A vast resource of allelic expression data spanning human tissues

By Stephane E. Castel, Francois Aguet, Pejman Mohammadi, GTEx Consortium, Kristin Ardlie, Tuuli Lappalainen

Posted 03 Oct 2019
bioRxiv DOI: 10.1101/792911 (published DOI: 10.1186/s13059-020-02122-z)

Allele specific expression (ASE) analysis robustly measures cis regulatory effects. Here, we present a vast ASE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of ASE at the SNP-level and 153 million measurements at the haplotype-level. In addition, we developed an extension of our tool phASER that allows effect sizes of cis regulatory variants to be estimated using haplotype-level ASE data. This ASE 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.

Download data

  • Downloaded 1,199 times
  • Download rankings, all-time:
    • Site-wide: 16,084
    • In genomics: 1,655
  • Year to date:
    • Site-wide: 49,238
  • Since beginning of last month:
    • Site-wide: 64,728

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)