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

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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Bibliographic Details
Main Authors: Ahmad, A. (Author), Brunet, T. (Author), Danyel, M. (Author), Dieck, S. (Author), Ehmke, N. (Author), Fleischer, N. (Author), Fröhlich, H. (Author), Haack, T. (Author), Kamphans, T. (Author), Knaus, A. (Author), Krawitz, P. (Author), Mehnert, L. (Author), Nadav, G. (Author), Ossowski, S. (Author), Peng, C. (Author), Rosnev, S. (Author), Schmid, A. (Author), Wagner, M. (Author), Wenzel, M. (Author), Zirn, B. (Author)
Format: Article
Language:English
Published: Oxford University Press 2021
Subjects:
Article
electronic health record
feature learning (machine learning)
gene frequency
genetic algorithm
genetic database
genotype
genotype phenotype correlation
human
intermethod comparison
knowledge
ontology
phenotype
rare disease
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