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PhenoSS: Phenotype semantic similarity-based approach for rare disease prediction and patient clustering

2026-03-02 health informatics Title + abstract only
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ObjectiveSystematic clinical phenotyping using Human Phenotype Ontology (HPO) is central to rare disease diagnosis. However, current disease prioritization (ranking candidate diseases from HPO for a patient) methods face key challenges: they often fail to account for the hierarchical structure of HPO terms, ignore dependencies among correlated terms, and do not adjust for batch effects arising from systematic differences in phenotype documentation across cohorts, institutions, or clinicians. We ...

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