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Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the ontology for the examination and comparison of genetic variation, phenotype, protein, drug and epitope data through the lens of human disease. DO is a biomedical resource of s...

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Autores principales: Kibbe, Warren A., Arze, Cesar, Felix, Victor, Mitraka, Elvira, Bolton, Evan, Fu, Gang, Mungall, Christopher J., Binder, Janos X., Malone, James, Vasant, Drashtti, Parkinson, Helen, Schriml, Lynn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383880/
https://www.ncbi.nlm.nih.gov/pubmed/25348409
http://dx.doi.org/10.1093/nar/gku1011
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author Kibbe, Warren A.
Arze, Cesar
Felix, Victor
Mitraka, Elvira
Bolton, Evan
Fu, Gang
Mungall, Christopher J.
Binder, Janos X.
Malone, James
Vasant, Drashtti
Parkinson, Helen
Schriml, Lynn M.
author_facet Kibbe, Warren A.
Arze, Cesar
Felix, Victor
Mitraka, Elvira
Bolton, Evan
Fu, Gang
Mungall, Christopher J.
Binder, Janos X.
Malone, James
Vasant, Drashtti
Parkinson, Helen
Schriml, Lynn M.
author_sort Kibbe, Warren A.
collection PubMed
description The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the ontology for the examination and comparison of genetic variation, phenotype, protein, drug and epitope data through the lens of human disease. DO is a biomedical resource of standardized common and rare disease concepts with stable identifiers organized by disease etiology. The content of DO has had 192 revisions since 2012, including the addition of 760 terms. Thirty-two percent of all terms now include definitions. DO has expanded the number and diversity of research communities and community members by 50+ during the past two years. These community members actively submit term requests, coordinate biomedical resource disease representation and provide expert curation guidance. Since the DO 2012 NAR paper, there have been hundreds of term requests and a steady increase in the number of DO listserv members, twitter followers and DO website usage. DO is moving to a multi-editor model utilizing Protégé to curate DO in web ontology language. This will enable closer collaboration with the Human Phenotype Ontology, EBI's Ontology Working Group, Mouse Genome Informatics and the Monarch Initiative among others, and enhance DO's current asserted view and multiple inferred views through reasoning.
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spelling pubmed-43838802015-04-08 Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data Kibbe, Warren A. Arze, Cesar Felix, Victor Mitraka, Elvira Bolton, Evan Fu, Gang Mungall, Christopher J. Binder, Janos X. Malone, James Vasant, Drashtti Parkinson, Helen Schriml, Lynn M. Nucleic Acids Res Database Issue The current version of the Human Disease Ontology (DO) (http://www.disease-ontology.org) database expands the utility of the ontology for the examination and comparison of genetic variation, phenotype, protein, drug and epitope data through the lens of human disease. DO is a biomedical resource of standardized common and rare disease concepts with stable identifiers organized by disease etiology. The content of DO has had 192 revisions since 2012, including the addition of 760 terms. Thirty-two percent of all terms now include definitions. DO has expanded the number and diversity of research communities and community members by 50+ during the past two years. These community members actively submit term requests, coordinate biomedical resource disease representation and provide expert curation guidance. Since the DO 2012 NAR paper, there have been hundreds of term requests and a steady increase in the number of DO listserv members, twitter followers and DO website usage. DO is moving to a multi-editor model utilizing Protégé to curate DO in web ontology language. This will enable closer collaboration with the Human Phenotype Ontology, EBI's Ontology Working Group, Mouse Genome Informatics and the Monarch Initiative among others, and enhance DO's current asserted view and multiple inferred views through reasoning. Oxford University Press 2014-10-27 2015-01-28 /pmc/articles/PMC4383880/ /pubmed/25348409 http://dx.doi.org/10.1093/nar/gku1011 Text en © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Kibbe, Warren A.
Arze, Cesar
Felix, Victor
Mitraka, Elvira
Bolton, Evan
Fu, Gang
Mungall, Christopher J.
Binder, Janos X.
Malone, James
Vasant, Drashtti
Parkinson, Helen
Schriml, Lynn M.
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title_full Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title_fullStr Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title_full_unstemmed Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title_short Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
title_sort disease ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383880/
https://www.ncbi.nlm.nih.gov/pubmed/25348409
http://dx.doi.org/10.1093/nar/gku1011
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