Article

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

2021-03-02

Abstract excerpt

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 is increasingly used in electronic health records (EHRs), too. Many algorithms that perform HPO-based gene prioritization have also been developed, however, the performance of many such tools...

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Literature Corpus work: 7e2c1adf-99a6-5411-a262-6710f6588ee8
DOI: 10.1101/2021.03.01.21251705

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