reviewNucleic Acids ResearchNov 28, 2016GOLD OA

The Human Phenotype Ontology in 2017

Charité - Universitätsmedizin Berlin · Oregon Health & Science University · +53 more institutions

PubMed
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Abstract

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical…

Citation impact

800
total citations
FWCI
70.68
Percentile
100%
References
102
Citations per year

Authors

59

Topics & keywords

Keywords
  • Phenotype
  • Biology
  • Computational biology
  • Ontology
  • Clinical phenotype
  • Terminology
  • Pipeline (software)
  • Disease
UN Sustainable Development Goals
  • Partnerships for the goals
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