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A vast resource of allelic expression data spanning human tissues

View ORCID ProfileStephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen
doi: https://doi.org/10.1101/792911
Stephane E. Castel
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
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  • ORCID record for Stephane E. Castel
  • For correspondence: scastel@nygenome.org tlappalainen@nygenome.org
François Aguet
3Broad Institute of MIT and Harvard, Cambridge, USA
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Pejman Mohammadi
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
4Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA
5The Scripps Translational Science Institute, La Jolla, CA, USA
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Kristin G. Ardlie
3Broad Institute of MIT and Harvard, Cambridge, USA
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Tuuli Lappalainen
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
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  • For correspondence: scastel@nygenome.org tlappalainen@nygenome.org
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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.

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Posted October 03, 2019.
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A vast resource of allelic expression data spanning human tissues
Stephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen
bioRxiv 792911; doi: https://doi.org/10.1101/792911
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A vast resource of allelic expression data spanning human tissues
Stephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen
bioRxiv 792911; doi: https://doi.org/10.1101/792911

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