Abstract
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.
Copyright
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Posted October 03, 2019.
