Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Journal
Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011
Informations de publication
Date de publication:
08 01 2019
08 01 2019
Historique:
received:
17
09
2018
accepted:
24
10
2018
pubmed:
27
11
2018
medline:
19
5
2020
entrez:
27
11
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30476213
pii: 5198478
doi: 10.1093/nar/gky1105
pmc: PMC6324074
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
D1018-D1027Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG009453
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG000330
Pays : United States
Organisme : NIH HHS
ID : R24 OD011883
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010218
Pays : United States
Organisme : British Heart Foundation
ID : RG/13/5/30112
Pays : United Kingdom
Organisme : NIAID NIH HHS
ID : P01 AI061093
Pays : United States
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