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Article

Towards similarity-based differential diagnostics for common diseases.

Computers in biology and medicine - 1 Jun 2021

Slater Karin, Karwath Andreas, Williams John A, Russell Sophie, Makepeace Silver, Carberry Alexander, Hoehndorf Robert, Gkoutos Georgios V

Abstract excerpt

Ontology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised...

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Identifiers

PMID: 33836447
DOI: 10.1016/j.compbiomed.2021.104360
PMCID: PMC8204262

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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