BioinformaticsJournal of the American Medical Informatics AssociationPeer-reviewed
Clustering rare diseases within an ontology-enriched knowledge graph
Jaleal S. Sanjak, Jessica Binder, Arjun Singh Yadaw…·Ewy A. Mathé
The paper clusters rare diseases using a knowledge graph with node embeddings, identifying 37 clusters with shared genes and semantic similarities.
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