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Towards similarity-based differential diagnostics for common diseases
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 prof...
Autores principales: | Slater, Luke T., Karwath, Andreas, Williams, John A., Russell, Sophie, Makepeace, Silver, Carberry, Alexander, Hoehndorf, Robert, Gkoutos, Georgios V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204262/ https://www.ncbi.nlm.nih.gov/pubmed/33836447 http://dx.doi.org/10.1016/j.compbiomed.2021.104360 |
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