Article

HYPOTHESIS GENERATION FOR RARE AND UNDIAGNOSED DISEASES THROUGH CLUSTERING AND CLASSIFYING TIME-VERSIONED BIOLOGICAL ONTOLOGIES

2023-11-13

Abstract excerpt

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 phe-notypes in the literature, then the patient will remain undiagnosed. When a direct variant-phenotype connection is no...

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Literature Corpus work: be97793d-4921-5081-89e7-c8cd87b09673
DOI: 10.1101/2023.11.09.566432

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