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Article

reg-eQTL: Integrating transcription factor effects to unveil regulatory variants.

American journal of human genetics - 6 Mar 2025

Mudappathi Rekha, Patton Tatiana, Chen Hai, Yang Ping, Sun Zhifu, Wang Panwen, Shi Chang-Xin, Wang Junwen, Liu Li

Abstract excerpt

Regulatory single-nucleotide variants (rSNVs) in noncoding regions of the genome play a crucial role in gene transcription by altering transcription factor (TF) binding, chromatin states, and other epigenetic modifications. Existing expression quantitative trait locus (eQTL) methods identify genomic loci associated with gene-expression changes, but they often fall short in pinpointing causal variants. We...

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Identifiers

PMID: 39922197
DOI: 10.1016/j.ajhg.2025.01.015
PMCID: PMC11947170

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TF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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