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

BMC Bioinformatics

Research Article

Andreas Zankl¹  Jane Hunter²  Tudor Groza² 

[1] Bone Dysplasia Research Group, UQ Centre for Clinical Research (UQCCR), The University of Queensland, Herston, Australia;Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia;School of ITEE, The University of Queensland, St. Lucia, Australia;

关键词: Skeletal Dysplasia;    Human Phenotype;    Bone Dysplasia;    Phenotype Ontology;    Human Phenotype Ontology;   

DOI  :  10.1186/1471-2105-13-50

 received in 2011-10-03, accepted in 2012-03-26,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundSkeletal 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.ResultsWe 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.ConclusionsThe 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.

【 授权许可】

CC BY   
© Groza et al; licensee BioMed Central Ltd. 2012