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Article

DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants.

Genome biology - 6 Aug 2024

Biddie Simon C, Weykopf Giovanna, Hird Elizabeth F, Friman Elias T, Bickmore Wendy A

Abstract excerpt

BACKGROUND: Genome-wide association studies (GWAS) have revealed a multitude of candidate genetic variants affecting the risk of developing complex traits and diseases. However, the highlighted regions are typically in the non-coding genome, and uncovering the functional causative single nucleotide variants (SNVs) is challenging. Prioritization of variants is commonly based on genomic annotation with markers of...

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DNA-Binding Proteins
DNA Footprinting
Enhancer Elements, Genetic
Genetic Variation
Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Quantitative Trait Loci

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Identifiers

PMID: 39107801
DOI: 10.1186/s13059-024-03352-1
PMCID: PMC11304670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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