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Article

Identifying deleterious noncoding variation through gain and loss of CTCF binding activity.

American journal of human genetics - 3 Apr 2025

Tubbs Colby, Benton Mary Lauren, McArthur Evonne, Capra John A, Ruderfer Douglas M

Abstract excerpt

CCCTC binding factor (CTCF) regulates gene expression through DNA binding at thousands of genomic loci. Genetic variation in these CTCF binding sites (CBSs) is an important driver of phenotypic variation, yet extracting those that are likely to have functional consequences in whole-genome sequencing remains challenging. To address this, we develop a hypothesis-driven framework to identify and prioritize CBS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40049170
DOI: 10.1016/j.ajhg.2025.02.009
PMCID: PMC12081274

Genes

CTCF
CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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