School of ITEE, The University of Queensland, St, Lucia, Australia.
BMC Bioinformatics. 2012 Mar 26;13:50. doi: 10.1186/1471-2105-13-50.
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.
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.
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.
骨骼发育不良是一组罕见且具有异质性的遗传疾病，影响骨骼发育。骨骼发育不良患者患有许多复杂的医学问题，包括退行性关节疾病和神经系统并发症。由于与该领域相关的数据和专业知识既稀少又分散，因此，如果有一个本体论提供对该领域知识的共享概念化，并能够在相关但分散的数据来源之间进行数据集成、交叉引用和高级推理，那么将带来显著的益处。
我们介绍了骨骼发育不良本体论的设计考虑因素和实现细节。我们还描述了本体论的不同组成部分，包括骨骼发育不良领域的全面和正式表示，以及相关的基因型和表型。然后，我们简要描述了 SKELETOME，这是一个由骨骼发育不良本体论支持的社区驱动的知识编纂平台。SKELETOME 使领域专家能够在无需事先本体工程经验的情况下使用、改进和扩展本体，从而推进骨骼发育不良领域的知识体系。
骨骼发育不良本体论代表了骨骼发育不良领域最全面的结构化知识库。它提供了整合和注释临床和研究数据的手段，不仅在通用领域知识层面，而且在个体患者病例研究层面。它能够在基于社区驱动的编纂过程的基础上建立个体病例与公开可用的基因型和表型资源之间的联系，从而确保对领域知识的共享概念化及其持续的增量演进。
