A vast resource of allelic expression data spanning human tissues

被引：58

作者：

Castel, Stephane E. ^{[1
,2
]}

Aguet, Francois ^{[3
]}

Mohammadi, Pejman ^{[1
,2
,4
,5
]}

Ardlie, Kristin G. ^{[3
]}

Lappalainen, Tuuli ^{[1
,2
]}

机构：

[1] New York Genome Ctr, New York, NY 10013 USA

[2] Columbia Univ, Dept Syst Biol, New York, NY USA

[3] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[4] Scripps Res Inst, Dept Integrat Struct & Computat Biol, La Jolla, CA 92037 USA

[5] Scripps Translat Sci Inst, La Jolla, CA USA

来源：

GENOME BIOLOGY | 2020年 / 21卷 / 01期

基金：

美国国家卫生研究院;

关键词：

ASE; Allelic expression; eQTL; Regulatory variation; Genomics; Functional genomics; GTEx; LANDSCAPE;

D O I：

10.1186/s13059-020-02122-z

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页数：12

共 21 条

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