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dc.contributor.authorSchriml, L.M.
dc.contributor.authorMitraka, E.
dc.contributor.authorMunro, J.
dc.date.accessioned2019-03-29T14:47:38Z
dc.date.available2019-03-29T14:47:38Z
dc.date.issued2019
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85059795792&doi=10.1093%2fnar%2fgky1032&partnerID=40&md5=9f9d6173a6fd8fc316d030c0dd1b7f3d
dc.identifier.urihttp://hdl.handle.net/10713/8715
dc.description.abstractThe Human Disease Ontology (DO) (http://www.disease-ontology.org), database has undergone significant expansion in the past three years. The DO disease classification includes specific formal semantic rules to express meaningful disease models and has expanded from a single asserted classification to include multiple-inferred mechanistic disease classifications, thus providing novel perspectives on related diseases. Expansion of disease terms, alternative anatomy, cell type and genetic disease classifications and workflow automation highlight the updates for the DO since 2015. The enhanced breadth and depth of the DO's knowledgebase has expanded the DO's utility for exploring the multi-etiology of human disease, thus improving the capture and communication of health-related data across biomedical databases, bioinformatics tools, genomic and cancer resources and demonstrated by a 6.6× growth in DO's user community since 2015. The DO's continual integration of human disease knowledge, evidenced by the more than 200 SVN/GitHub releases/revisions, since previously reported in our DO 2015 NAR paper, includes the addition of 2650 new disease terms, a 30% increase of textual definitions, and an expanding suite of disease classification hierarchies constructed through defined logical axioms. © The Author(s) 2018.en_US
dc.description.sponsorshipNational Institutes of Health-National Human Genome Research Institute (NHGRI) [U41 HG008735-01A1 to L.S.]; NIH-NHGRI U41 [BD2K] Administrative Supplemental [2U41HG000330-28 to J.E., M.G.I.]. Funding for open access charge: NIH/NHGRI [U41 HG008735-01A1].en_US
dc.description.urihttps://dx.doi.org/10.1093/nar/gky1032en_US
dc.language.isoen_USen_US
dc.publisherOxford University Pressen_US
dc.relation.ispartofNucleic Acids Research
dc.subjectHuman Disease Ontologyen_US
dc.titleHuman Disease Ontology 2018 update: Classification, content and workflow expansionen_US
dc.typeArticleen_US
dc.identifier.doi10.1093/nar/gky1032
dc.identifier.pmid30407550


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