CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms of the Human Phenotype Ontology (HPO), which are increasingly used in electronic health records (EHRs), too. Many algori...

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Detalles Bibliográficos
Autores principales: Peng, Chengyao, Dieck, Simon, Schmid, Alexander, Ahmad, Ashar, Knaus, Alexej, Wenzel, Maren, Mehnert, Laura, Zirn, Birgit, Haack, Tobias, Ossowski, Stephan, Wagner, Matias, Brunet, Theresa, Ehmke, Nadja, Danyel, Magdalena, Rosnev, Stanislav, Kamphans, Tom, Nadav, Guy, Fleischer, Nicole, Fröhlich, Holger, Krawitz, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Methods Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8415429/
https://www.ncbi.nlm.nih.gov/pubmed/34514393
http://dx.doi.org/10.1093/nargab/lqab078

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