The Human Phenotype Ontology in 2024: phenotypes around the world
Jackson Laboratory · Ghana Health Service · +96 more institutions
Abstract
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in…
Citation impact
- FWCI
- 104.11
- Percentile
- 100%
- References
- 56
Authors
176Topics & keywords
- Ontology
- Clinical phenotype
- Biology
- Inference
- Phenotype
- Data science
- Disease
- Analytics
- Partnerships for the goals
Funding
- UDU.S. Department of EnergyAward: DE-AC02-05CH11231
- WTWellcome TrustAward: 203914/Z/16/Z
- MCMcCusker Charitable Foundation
- DFDeutsche ForschungsgemeinschaftAward: WY 215/1-1
- BIBerlin Institute of Health
- AWAngela Wright Bennett Foundation
- NINational Institutes of HealthAwards: K08AG054727, 5R24OD011883-11, 5U24HG011449-03
- DADefense Advanced Research Projects AgencyAward: W911NF-20-1-0255
- H2Horizon 2020 Framework ProgrammeAward: 779257
- NINational Institute of Mental HealthAward: U24 MH068457
- NHNational Human Genome Research InstituteAward: 7RM1HG010860-02
- NINational Institute of Child Health and Human DevelopmentAward: R01HD105266
- NINational Institute of Dental and Craniofacial ResearchAward: R03-DE032062
- UNU.S. National Library of MedicineAwards: T15LM009451, NLM T15LM007079
- NCNational Center for Advancing Translational SciencesAward: NCATS U24 TR002306