Hypothesis generation for rare and undiagnosed diseases through clustering and classifying time-versioned biological ontologies.

ABSTRACT: Rare diseases affect 1-in-10 people in the United States and despite increased genetic testing, up to half never receive a diagnosis. Even when using advanced genome sequencing platforms to discover variants, if there is no connection between the variants found in the patient's genome and their phenotypes in the literature, then the patient will remain undiagnosed. When a direct variant-phenotype connection is not known, putting a patient's information in the larger context of phenotype relationships and protein-protein interactions may provide an opportunity to find an indirect explanation. Databases such as STRING contain millions of protein-protein interactions, and the Human Phenotype Ontology (HPO) contains the relations of thousands of phenotypes. By integrating these networks and cl

SUBMITTER: Bradshaw MS 

PROVIDER: S-EPMC11670971 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature