Article

Performance of Information Theory Derived Semantic Similarity Algorithms for Differential Diagnosis and Clustering

2025-11-18

Abstract excerpt

<h4>ABSTRACT</h4> Semantic similarity analysis with Human Phenotype Ontology (HPO) enables fuzzy, specificity weighted comparisons of clinical manifestations of individuals and diseases and can be used to support differential diagnostics or to stratify cohorts. Many methods have been proposed to calculate semantic similarity for various applications, including the Phenomizer, which calculates the average best mat...

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Literature Corpus work: 1d20ae59-a4c9-5543-bf55-6774ba25f346
DOI: 10.1101/2025.11.17.688933

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