Genome biologyGenomicsPeer-reviewed journal article
A vast resource of allelic expression data spanning human tissues
Stephane E. CasteliD, François AguetiD, Pejman MohammadiiD, Shankara K. AnandiD, Kristin ArdlieiD, Stacey GabrieliD, Gad A. GetziD, Aaron GraubertiD, Kane HadleyiD, Robert E. HandsakeriD, Katherine H HuangiD, Seva KashiniD, Xiao LiiD, Daniel G. MacArthuriD, Samuel R. MeieriD, Jared L. NedzeliD, Duyen T. NguyeniD, Ayellet V. SegrèiD, Ellen Z. TodresiD, Brunilda BalliuiD, Alvaro BarbeiraiD, Alexis J. BattleiD, Rodrigo BonazzolaiD, Andrew Anand BrowniD, Christopher D. BrowniD, , Valentin WucheriD
- Citations
- 134
- FWCI
- 11.12
- Field percentile
- top 1%
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.
- organism: human
- assay: GWAS summary statistics
- research focus: eQTL / molecular QTL mapping
- approach: statistical model
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