Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

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• dc.contributor.author Köhler, Sebastian
• dc.contributor.author Beltran, Sergi
• dc.contributor.author Lochmüller, Hanns
• dc.date.accessioned 2019-03-13T08:46:07Z
• dc.date.available 2019-03-13T08:46:07Z
• dc.date.issued 2019
• dc.description.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.
• dc.description.sponsorship National Institutes of Health (NIH), Monarch Initiative [OD #5R24OD011883]; Forums for Integrative Phenomics [U13 CA221044-01]; NCATS Data Translator [1OT3TR002019]; NCATS National Center for Digital Health Informatics Innovation [U24 TR002306]; NIH Data Commons [1 OT3 OD02464-01 UNCCH]; Cost Action CA 16118 Neuro-MIG; British Heart Foundation Programme Grant [RG/13/5/30112]; Division of Intramural Research; NIAID; NIH; E-RARE project Hipbi-RD [01GM1608]; European Union’s Horizon 2020 Research and Innovation Programme [779257]. Funding for open access charge: NIH; Donald A. Roux Family Fund (to P.N.R.).
• dc.format.mimetype application/pdf
• dc.identifier.citation Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP et al. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019; 47(D1):1018-27. DOI: 10.1093/nar/gky1105
• dc.identifier.doi http://dx.doi.org/10.1093/nar/gky1105
• dc.identifier.issn 0305-1048
• dc.identifier.uri http://hdl.handle.net/10230/36800
• dc.language.iso eng
• dc.publisher Oxford University Press
• dc.relation.ispartof Nucleic Acids Research. 2019; 47(D1):1018-27
• dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
• dc.rights © The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.title Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion