The Human Phenotype Ontology in 2017
Charité - Universitätsmedizin Berlin · Oregon Health & Science University · +53 more institutions
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
- FWCI
- 70.68
- Percentile
- 100%
- References
- 102
Authors
59Topics & keywords
- Phenotype
- Biology
- Computational biology
- Ontology
- Clinical phenotype
- Terminology
- Pipeline (software)
- Disease
- Partnerships for the goals
Funding
- UDU.S. Department of EnergyAwards: -AC02-05CH11231, 05CH11231, R24-OD011883, AC02-05CH11231, DE-AC02, DE-AC02-05CH11231, DE-AC02-
- CSCold Spring Harbor Laboratory
- NBNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- EE-Rare
- NINational Institute for Health and Care ResearchAward: FP7/2007-2013
- ECEuropean CommissionAwards: 305608, 305444, 2012-305121, FP7/2007-2013, DE-AC02-05CH11231, 2007-2013, FP7/2007, 2012-305608, 305121
- ESEuropean Science FoundationAward: HE5415/3-1
- DFDeutsche ForschungsgemeinschaftAwards: DE-AC02-05CH11231, HE5415/6-1, FP7/2007-2013, HE5415/3-1, HE5415/5-1
- BFBundesministerium für Bildung und ForschungAwards: 0313911, 01DH12033
- MEMoorfields Eye Hospital NHS Foundation Trust
- NINational Institutes of HealthAwards: FP7/2007-2013, 5R24OD011883, NIH OD #5R24OD011883, DE-AC02-05CH11231, OD #5R24OD011883
- OOOffice of ScienceAwards: AC02-05CH11231, -AC02-05CH11231, DE-AC02
- UNU.S. National Library of Medicine
- BEBasic Energy SciencesAwards: DE-AC02, AC02-05CH11231, DE-AC02-05CH11231, -AC02-05CH11231