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