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

被引:413
作者
Kibbe, Warren A. [1 ]
Arze, Cesar [2 ]
Felix, Victor [2 ]
Mitraka, Elvira [2 ]
Bolton, Evan [3 ]
Fu, Gang [3 ]
Mungall, Christopher J. [4 ]
Binder, Janos X. [5 ,6 ]
Malone, James [7 ]
Vasant, Drashtti [7 ]
Parkinson, Helen [7 ]
Schriml, Lynn M. [2 ,8 ]
机构
[1] NCI, Ctr Biomed Informat & Informat Technol, Rockville, MD 20850 USA
[2] Univ Maryland, Sch Med, Inst Genome Sci, Baltimore, MD 21201 USA
[3] NIH, PubChem, Natl Ctr Biotechnol Informat, Natl Lib Med,Dept Hlth & Human Serv, Bethesda, MD 20894 USA
[4] Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Genom Div, Berkeley, CA 94720 USA
[5] European Mol Biol Lab, Struct & Computat Biol Unit, D-69117 Heidelberg, Germany
[6] Univ Luxembourg, LCSB, Bioinformat Core Facil, L-4362 Luxembourg, Luxembourg
[7] EBI, EMBL, Cambridge CB10 1SD, England
[8] Univ Maryland, Sch Med, Dept Epidemiol & Publ Hlth, Baltimore, MD 21201 USA
基金
英国惠康基金; 美国国家卫生研究院;
关键词
INFORMATION; SYSTEM; MODEL;
D O I
10.1093/nar/gku1011
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The current version of the Human Disease Ontology (DO) ( ext-link-type="uri" xlink:href="http://www.disease-ontology.org" xlink:type="simple">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 Prot,g, 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.
引用
收藏
页码:D1071 / D1078
页数:8
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