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Article

Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases.

Frontiers in bioscience (Scholar edition) - 1 Mar 2024

Peña-Martínez Edwin G, Rodríguez-Martínez José A

Abstract excerpt

Genome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5' and 3' UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38538340
DOI: 10.31083/j.fbs1601004
PMCID: PMC11044903

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TF

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