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Article

EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies.

American journal of human genetics - 3 Jun 2021

Ruffieux Hélène, Fairfax Benjamin P, Nassiri Isar, Vigorito Elena, Wallace Chris, Richardson Sylvia, Bottolo Leonardo

Abstract excerpt

We present EPISPOT, a fully joint framework which exploits large panels of epigenetic annotations as variant-level information to enhance molecular quantitative trait locus (QTL) mapping. Thanks to a purpose-built Bayesian inferential algorithm, EPISPOT accommodates functional information for both cis and trans actions, including QTL hotspot effects. It effectively couples simultaneous QTL analysis of thousands...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33909991
DOI: 10.1016/j.ajhg.2021.04.010
PMCID: PMC8206410

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