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From GWAS Signals to Molecular Mechanisms: Explainable AI for Causal Gene Prioritization and Biomolecular Target Interpretation.

Biomolecules - 14 Jul 2026

Ang Mia Yang, Chen Li, Song Lanni, Lipovich Leonard, Choo Siew Woh

Abstract excerpt

Genome-wide association studies (GWAS) have identified thousands of loci associated with complex human diseases. However, the majority of the association signals reside in non-coding regions of the genome, and do not directly reveal the causal variant, effector gene, regulatory biomolecule, cell type, pathway, biomarker, or therapeutic target. Because many disease-associated variants act through non-coding...

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PMID: 42509822
DOI: 10.3390/biom16071029
PMCID: PMC13406849

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