Article

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

2026-03-02

Abstract excerpt

<h4>Objective</h4> Systematic 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 syst...

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Literature Corpus work: 55e3d169-fe9a-5ee3-a3ea-3d0a23bd4d81
DOI: 10.64898/2026.02.26.26347219

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