期刊
GENOME BIOLOGY
卷 21, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13059-020-02122-z
关键词
ASE; Allelic expression; eQTL; Regulatory variation; Genomics; Functional genomics; GTEx
资金
- Common Fund of the Office of the Director of the National Institutes of Health (NIH)
- National Cancer Institute (NCI)
- National Human Genome Research Institute (NHGRI)
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute on Drug Abuse (NIDA)
- National Institute of Mental Health (NIMH)
- National Institute of Neurological Disorders and Stroke (NINDS)
- NHGRI [1K99HG009916-01]
- NIGMS [R01GM122924]
- NIMH [R01MH106842, R01MH101814]
- NIH [UM1HG008901, 1U24DK112331, HHSN2682010000029C]
- NIH Center for Translational Science Award (CTSA) [UL1TR002550-01, 5UL1 TR001114-05]
Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of AE at the SNP level and 153 million measurements at the haplotype level. In addition, we develop an extension of our tool phASER that allows effect sizes of cis-regulatory variants to be estimated using haplotype-level AE data. This AE 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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