eprintid: 10062986 rev_number: 32 eprint_status: archive userid: 608 dir: disk0/10/06/29/86 datestamp: 2018-12-04 09:52:58 lastmod: 2021-12-02 23:04:31 status_changed: 2019-01-30 11:15:25 type: article metadata_visibility: show creators_name: Köhler, S creators_name: Carmody, L creators_name: Vasilevsky, N creators_name: Jacobsen, JOB creators_name: Danis, D creators_name: Gourdine, J-P creators_name: Gargano, M creators_name: Harris, NL creators_name: Matentzoglu, N creators_name: McMurry, JA creators_name: Osumi-Sutherland, D creators_name: Cipriani, V creators_name: Balhoff, JP creators_name: Conlin, T creators_name: Blau, H creators_name: Baynam, G creators_name: Palmer, R creators_name: Gratian, D creators_name: Dawkins, H creators_name: Segal, M creators_name: Jansen, AC creators_name: Muaz, A creators_name: Chang, WH creators_name: Bergerson, J creators_name: Laulederkind, SJF creators_name: Yüksel, Z creators_name: Beltran, S creators_name: Freeman, AF creators_name: Sergouniotis, PI creators_name: Durkin, D creators_name: Storm, AL creators_name: Hanauer, M creators_name: Brudno, M creators_name: Bello, SM creators_name: Sincan, M creators_name: Rageth, K creators_name: Wheeler, MT creators_name: Oegema, R creators_name: Lourghi, H creators_name: Della Rocca, MG creators_name: Thompson, R creators_name: Castellanos, F creators_name: Priest, J creators_name: Cunningham-Rundles, C creators_name: Hegde, A creators_name: Lovering, RC creators_name: Hajek, C creators_name: Olry, A creators_name: Notarangelo, L creators_name: Similuk, M creators_name: Zhang, XA creators_name: Gómez-Andrés, D creators_name: Lochmüller, H creators_name: Dollfus, H creators_name: Rosenzweig, S creators_name: Marwaha, S creators_name: Rath, A creators_name: Sullivan, K creators_name: Smith, C creators_name: Milner, JD creators_name: Leroux, D creators_name: Boerkoel, CF creators_name: Klion, A creators_name: Carter, MC creators_name: Groza, T creators_name: Smedley, D creators_name: Haendel, MA creators_name: Mungall, C creators_name: Robinson, PN title: Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D08 divisions: D14 divisions: GA2 note: © 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/). 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. date: 2019-01-08 date_type: published official_url: https://doi.org/10.1093/nar/gky1105 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green article_type_text: Journal Article verified: verified_manual elements_id: 1605836 doi: 10.1093/nar/gky1105 pii: 5198478 language_elements: English lyricists_name: Cipriani, Valentina lyricists_name: Lovering, Ruth lyricists_id: VCIPR76 lyricists_id: RCLOV36 actors_name: Lovering, Ruth actors_id: RCLOV36 actors_role: owner full_text_status: public publication: Nucleic Acids Research volume: 47 number: D1 pagerange: D1018-D1027 event_location: England issn: 0305-1048 citation: Köhler, S; Carmody, L; Vasilevsky, N; Jacobsen, JOB; Danis, D; Gourdine, J-P; Gargano, M; ... Robinson, PN; + view all <#> Köhler, S; Carmody, L; Vasilevsky, N; Jacobsen, JOB; Danis, D; Gourdine, J-P; Gargano, M; Harris, NL; Matentzoglu, N; McMurry, JA; Osumi-Sutherland, D; Cipriani, V; Balhoff, JP; Conlin, T; Blau, H; Baynam, G; Palmer, R; Gratian, D; Dawkins, H; Segal, M; Jansen, AC; Muaz, A; Chang, WH; Bergerson, J; Laulederkind, SJF; Yüksel, Z; Beltran, S; Freeman, AF; Sergouniotis, PI; Durkin, D; Storm, AL; Hanauer, M; Brudno, M; Bello, SM; Sincan, M; Rageth, K; Wheeler, MT; Oegema, R; Lourghi, H; Della Rocca, MG; Thompson, R; Castellanos, F; Priest, J; Cunningham-Rundles, C; Hegde, A; Lovering, RC; Hajek, C; Olry, A; Notarangelo, L; Similuk, M; Zhang, XA; Gómez-Andrés, D; Lochmüller, H; Dollfus, H; Rosenzweig, S; Marwaha, S; Rath, A; Sullivan, K; Smith, C; Milner, JD; Leroux, D; Boerkoel, CF; Klion, A; Carter, MC; Groza, T; Smedley, D; Haendel, MA; Mungall, C; Robinson, PN; - view fewer <#> (2019) Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research , 47 (D1) D1018-D1027. 10.1093/nar/gky1105 <https://doi.org/10.1093/nar%2Fgky1105>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10062986/1/Lovering_Expansion%20of%20the%20Human%20Phenotype%20Ontology%20%28HPO%29%20knowledge%20base%20and%20resources_VoR.pdf