Article

Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases

2019-12-10

Abstract excerpt

Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic settings to aid in the characterization of patient phenotypes. The HPO annotation database is updated frequently and can provide detailed phenotype knowledge on various human diseases, and many HPO terms are now mapped to candidate causal genes with binary relationships. To further improve the genetic diagnosis of rare diseases, we incorporat...

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Identifiers and source

Literature Corpus work: 7bd97618-291c-51da-93c1-bd9e305bcf01
DOI: 10.1101/870527

Open publication

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