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Article

INDIGENA: inductive prediction of disease-gene associations using phenotype ontologies.

Bioinformatics (Oxford, England) - 1 Jun 2026

Zhapa-Camacho Fernando, Hoehndorf Robert

Abstract excerpt

MOTIVATION: Predicting gene-disease associations (GDAs) can be framed as a ranking problem where genes are ranked for a query disease based on features such as phenotypic similarity. By describing phenotypes using phenotype ontologies, ontology-based semantic similarity measures can be used. However, traditional semantic similarity measures use only the ontology taxonomy. Recent methods based on ontology...

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PMID: 42166723
DOI: 10.1093/bioinformatics/btag325
PMCID: PMC13242216

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