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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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. Dep...

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Detalhes bibliográficos
Main Authors: Köhler, Sebastian, Schulz, Marcel H., Krawitz, Peter, Bauer, Sebastian, Dölken, Sandra, Ott, Claus E., Mundlos, Christine, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756558/
https://ncbi.nlm.nih.gov/pubmed/19800049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.003
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