The Bone Dysplasia Ontology: Integrating genotype and phenotype information in the skeletal dysplasia domain

Groza, Tudor, Hunter, Jane and Zankl, Andreas (2012) The Bone Dysplasia Ontology: Integrating genotype and phenotype information in the skeletal dysplasia domain. BMC Bioinformatics, 13 1: 50.1-50.13. doi:10.1186/1471-2105-13-50


Author Groza, Tudor
Hunter, Jane
Zankl, Andreas
Total Author Count Override 3
Title The Bone Dysplasia Ontology: Integrating genotype and phenotype information in the skeletal dysplasia domain
Journal name BMC Bioinformatics   Check publisher's open access policy
ISSN 1471-2105
Publication date 2012-03
Sub-type Article (original research)
DOI 10.1186/1471-2105-13-50
Open Access Status DOI
Volume 13
Issue 1
Start page 50.1
End page 50.13
Total pages 13
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2013
Language eng
Formatted abstract
Background: Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources.

Results: We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field.

Conclusions
: The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.
Keyword Evolution
Tool
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article number 50

 
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