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

ABSTRACT: 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 algorithms that perform HPO-based gene prioritization have also been developed; however, the performance of many such tools suffers from an over-representation of atypical cases in the medical literature. This is certainly the case if the algorithm cannot handle features that occur with reduced frequency in a disorder. With Cada, we built a knowledge graph based on both case annotations and disorder annotations. Using network representation learning, we achieve gene prioritization by link prediction.

SUBMITTER: Peng C 

PROVIDER: S-EPMC8415429 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature