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Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies.


ABSTRACT: Expression quantitative trait loci (eQTL) mapping is a tool that can systematically identify genetic variation affecting gene expression. eQTL mapping studies have shown that certain genomic locations, referred to as regulatory hotspots, may affect the expression levels of many genes. Recently, studies have shown that various confounding factors may induce spurious regulatory hotspots. Here, we introduce a novel statistical method that effectively eliminates spurious hotspots while retaining genuine hotspots. Applied to simulated and real datasets, we validate that our method achieves greater sensitivity while retaining low false discovery rates compared to previous methods.

SUBMITTER: Joo JW 

PROVIDER: S-EPMC4053820 | biostudies-other | 2014 Apr

REPOSITORIES: biostudies-other

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Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies.

Joo Jong Wha J JW   Sul Jae Hoon JH   Han Buhm B   Ye Chun C   Eskin Eleazar E  

Genome biology 20140407 4


Expression quantitative trait loci (eQTL) mapping is a tool that can systematically identify genetic variation affecting gene expression. eQTL mapping studies have shown that certain genomic locations, referred to as regulatory hotspots, may affect the expression levels of many genes. Recently, studies have shown that various confounding factors may induce spurious regulatory hotspots. Here, we introduce a novel statistical method that effectively eliminates spurious hotspots while retaining gen  ...[more]

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