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Article

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

American journal of human genetics - 1 Oct 2009

Köhler Sebastian, Schulz Marcel H, Krawitz Peter, Bauer Sebastian, Dölken Sandra, Ott Claus E, Mundlos Christine, Horn Denise, Mundlos Stefan, Robinson Peter N

Abstract excerpt

The differential diagnostic process attempts to identify candidate diseases that best explain a set of clinical features. This process can be complicated by the fact that the features can have varying degrees of specificity, as well as by the presence of features unrelated to the disease itself. Depending on the experience of the physician and the availability of laboratory tests, clinical abnormalities may be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19800049
DOI: 10.1016/j.ajhg.2009.09.003
PMCID: PMC2756558

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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