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Article

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

PloS one - 1 Jan 2024

Bradshaw Michael S, Gibbs Connor, Martin Skylar, Firman Taylor, Gaskell Alisa, Fosdick Bailey, Layer Ryan

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 phenotypes in the literature, then the patient will remain undiagnosed. When a direct variant-phenotype connection is...

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PMID: 39724242
DOI: 10.1371/journal.pone.0309205
PMCID: PMC11670971

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