Journal article
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Nucleic Acids Research, Vol.47(D1), pp.D1018-D1027
2018
Abstract
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.
Details
- Title
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
- Authors/Creators
- S. Köhler (Author/Creator) - Humboldt-Universität zu BerlinL. Carmody (Author/Creator)N. Vasilevsky (Author/Creator) - Oregon Health & Science UniversityJ.O.B Jacobsen (Author/Creator) - Queen Mary University of LondonD. Danis (Author/Creator)J-P Gourdine (Author/Creator) - Oregon Health & Science UniversityM. Gargano (Author/Creator)N.L Harris (Author/Creator) - Lawrence Berkeley National LaboratoryN. Matentzoglu (Author/Creator) - European Bioinformatics InstituteJ.A. McMurry (Author/Creator) - Oregon State UniversityD. Osumi-Sutherland (Author/Creator) - European Bioinformatics InstituteV. Cipriani (Author/Creator)J.P. Balhoff (Author/Creator) - University of North Carolina at Chapel HillT. Conlin (Author/Creator) - Oregon State UniversityH. Blau (Author/Creator)G. Baynam (Author/Creator)R. Palmer (Author/Creator) - Curtin UniversityD. Gratian (Author/Creator) - Government of Western AustraliaH. Dawkins (Author/Creator) - Government of Western AustraliaM. Segal (Author/Creator) - Chestnut Hill CollegeA.C. Jansen (Author/Creator) - Vrije Universiteit BrusselA. Muaz (Author/Creator) - Garvan Institute of Medical ResearchW.H. Chang (Author/Creator) - University of TorontoJ. Bergerson (Author/Creator)S.J.F. Laulederkind (Author/Creator) - Medical College of WisconsinZ. Yüksel (Author/Creator)S. Beltran (Author/Creator) - Universitat Pompeu FabraA.F. Freeman (Author/Creator) - National Institutes of HealthP.I. Sergouniotis (Author/Creator) - Manchester Royal Eye HospitalD. Durkin (Author/Creator)A.L. Storm (Author/Creator) - National Institutes of HealthM. Hanauer (Author/Creator) - InsermM. Brudno (Author/Creator) - University of TorontoS.M. Bello (Author/Creator)M. Sincan (Author/Creator) - Sanford HealthK. Rageth (Author/Creator) - Sanford HealthM.T. Wheeler (Author/Creator) - Stanford UniversityR. Oegema (Author/Creator) - Utrecht UniversityH. Lourghi (Author/Creator) - InsermM.G. Della Rocca (Author/Creator) - National Institutes of HealthR. Thompson (Author/Creator) - Newcastle UniversityF. Castellanos (Author/Creator)J. Priest (Author/Creator) - Stanford UniversityC. Cunningham-Rundles (Author/Creator) - Icahn School of Medicine at Mount SinaiA. Hegde (Author/Creator)R.C. Lovering (Author/Creator) - University College LondonC. Hajek (Author/Creator) - Sanford HealthA. Olry (Author/Creator) - InsermL. Notarangelo (Author/Creator) - National Institutes of HealthM. Similuk (Author/Creator) - National Institutes of HealthX.A. Zhang (Author/Creator)D. Gómez-Andrés (Author/Creator)H. Lochmüller (Author/Creator)H. Dollfus (Author/Creator) - Université de StrasbourgS. Rosenzweig (Author/Creator)S. Marwaha (Author/Creator) - Stanford UniversityA. Rath (Author/Creator) - InsermK. Sullivan (Author/Creator) - Children's Hospital of PhiladelphiaC. Smith (Author/Creator)J.D. Milner (Author/Creator) - National Institutes of HealthD. Leroux (Author/Creator) - Université de StrasbourgC.F. Boerkoel (Author/Creator) - Sanford HealthA. Klion (Author/Creator) - National Institutes of HealthM.C. Carter (Author/Creator) - National Institutes of HealthT. Groza (Author/Creator) - Garvan Institute of Medical ResearchD. Smedley (Author/Creator) - Queen Mary University of LondonM.A Haendel (Author/Creator) - Oregon State UniversityC. Mungall (Author/Creator) - Lawrence Berkeley National LaboratoryP.N. Robinson (Author/Creator) - University of Connecticut
- Publication Details
- Nucleic Acids Research, Vol.47(D1), pp.D1018-D1027
- Publisher
- Oxford University Press
- Identifiers
- 991005544429407891
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- 1.54 Molecular & Cell Biology - Genetics
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