Hypothesis Generation for Rare and Undiagnosed Diseases Through Clustering and Classifying Time-Versioned Biological Ontologies
Michael S. Bradshaw,
Connor P. Gibbs,
Skylar Martin
et al.
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 phe-notypes 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 relation-ships and pro… Show more
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