生物
基因
遗传学
计算生物学
人类遗传学
外显子
遗传关联
鉴定(生物学)
单核苷酸多态性
基因表达调控
基因型
植物
作者
Xuanyao Liu,Joel Mefford,Andrew Dahl,Yuan He,Meena Subramaniam,Alexis Battle,Alkes L. Price,Noah Zaitlen
出处
期刊:Genome Biology
[Springer Nature]
日期:2020-08-24
卷期号:21 (1)
被引量:15
标识
DOI:10.1186/s13059-020-02120-1
摘要
Abstract The observation that disease-associated genetic variants typically reside outside of exons has inspired widespread investigation into the genetic basis of transcriptional regulation. While associations between the mRNA abundance of a gene and its proximal SNPs ( cis -eQTLs) are now readily identified, identification of high-quality distal associations ( trans -eQTLs) has been limited by a heavy multiple testing burden and the proneness to false-positive signals. To address these issues, we develop GBAT, a powerful gene-based pipeline that allows robust detection of high-quality trans -gene regulation signal.
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