Article (Scientific journals)
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 et al.
2015In Nucleic Acids Research, 43 (Database issue), p. 1071-8
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Keywords :
Biological Ontologies; Databases, Factual; Disease; Genetic Diseases, Inborn; Humans; Internet; Rare Diseases/genetics
Abstract :
[en] 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 Protege 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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Disciplines :
Life sciences: Multidisciplinary, general & others
Author, co-author :
Kibbe, Warren A.
Arze, Cesar
Felix, Victor
Mitraka, Elvira
Bolton, Evan
Fu, Gang
Mungall, Christopher J.
Binder, Janos X. ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Malone, James
Vasant, Drashtti
Parkinson, Helen
Schriml, Lynn M.
External co-authors :
yes
Language :
English
Title :
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data.
Publication date :
2015
Journal title :
Nucleic Acids Research
ISSN :
1362-4962
Publisher :
Oxford University Press, Oxford, United Kingdom
Volume :
43
Issue :
Database issue
Pages :
D1071-8
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.
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