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dc.contributor.authorBello, S.M.
dc.contributor.authorShimoyama, M.
dc.contributor.authorMitraka, E.
dc.date.accessioned2019-05-21T18:56:22Z
dc.date.available2019-05-21T18:56:22Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85045050282&doi=10.1242%2fdmm.032839&partnerID=40&md5=68b6d0b7942300e0c93615636509628a
dc.identifier.urihttp://hdl.handle.net/10713/9253
dc.description.abstractModel organisms are vital to uncovering the mechanisms of human disease and developing new therapeutic tools. Researchers collecting and integrating relevant model organism and/or human data often apply disparate terminologies (vocabularies and ontologies), making comparisons and inferences difficult. A unified disease ontology is required that connects data annotated using diverse disease terminologies, and in which the terminology relationships are continuously maintained. The Mouse Genome Database (MGD, http://www.informatics.jax.org), Rat Genome Database (RGD, http://rgd.mcw.edu) and Disease Ontology (DO, http://www.diseaseontology.org) projects are collaborating to augment DO, aligning and incorporating disease terms used by MGD and RGD, and improving DO as a tool for unifying disease annotations across species. Coordinated assessment of MGD's and RGD's disease term annotations identified new terms that enhance DO's representation of human diseases. Expansion of DO term content and cross-references to clinical vocabularies (e.g. OMIM, ORDO, MeSH) has enriched the DO's domain coverage and utility for annotating many types of data generated from experimental and clinical investigations. The extension of anatomy-based DO classification structure of disease improves accessibility of terms and facilitates application of DO for computational research. A consistent representation of disease associations across data types from cellular to whole organism, generated from clinical and model organism studies, will promote the integration, mining and comparative analysis of these data. The coordinated enrichment of the DO and adoption of DO by MGD and RGD demonstrates DO's usability across human data, MGD, RGD and the rest of the model organism database community. Copyright 2018. Published by The Company of Biologists Ltden_US
dc.description.sponsorshipFunded by the National Human Genome Research Institute [supplement to grant number: 3U41HG000330-27S2], the National Heart, Lung, and Blood Institute [grant number: 3R01HLB64541] and National Human Genome Research Institute [grant number: 5U41HG000330].en_US
dc.description.urihttps://dx.doi.org/10.1242/dmm.032839en_US
dc.language.isoen_USen_US
dc.publisherCompany of Biologists Ltden_US
dc.relation.ispartofDMM Disease Models and Mechanisms
dc.subjectDisease modelsen_US
dc.subjectMouseen_US
dc.subjectOntologiesen_US
dc.subjectRaten_US
dc.titleDisease Ontology: Improving and unifying disease annotations across speciesen_US
dc.typeArticleen_US
dc.identifier.doi10.1242/dmm.032839
dc.identifier.pmid29590633


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