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A vast resource of allelic expression data spanning human tissues

By Stephane E. Castel, Fran├žois Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. 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.

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