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A vast resource of allelic expression data spanning human tissues
Genome Biology ( IF 10.1 ) Pub Date : 2020-09-11 , DOI: 10.1186/s13059-020-02122-z
Stephane E Castel 1, 2 , François Aguet 3 , Pejman Mohammadi 1, 2, 4, 5 , , Kristin G Ardlie 3 , Tuuli Lappalainen 1, 2
Affiliation  

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.

中文翻译:


跨越人体组织的大量等位基因表达数据资源



等位基因表达 (AE) 分析可有力地测量顺式调节效应。在这里,我们展示并展示了 GTEx v8 版本生成的大量 AE 资源的实用性,其中包含跨越 54 个人体组织的 15,253 个样本,在 SNP 水平上总共进行了 4.31 亿次 AE 测量,在单倍型水平上进行了 1.53 亿次测量。此外,我们开发了工具 phASER 的扩展,允许使用单倍型水平的 AE 数据来估计顺式调节变体的效应大小。该 AE 资源是迄今为止最大的,我们能够公开提供单倍型级别的数据。我们预计该资源的可用性将使未来对人体组织的调控变异的研究成为可能。
更新日期:2020-09-11
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