Ontology-driven association rule mining for biomedical entity relationships: integrating hierarchical knowledge to improve gene-disease discovery.

Abstract excerpt

Reliable links between genes and diseases are central to biomedical research; however, many computational methods overlook the semantic and hierarchical layers of ontologies, missing indirect relationships and producing shallow association scores. We propose an ontology-driven framework for gene-disease association mining that integrates hierarchical knowledge from the Gene Ontology and Disease Ontology. Our...

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