The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.
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DOI：
10.1186/1471-2105-13-50
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发表时间：
2012-03-26
影响因子：
3
通讯作者：
Zankl A
中科院分区：
文献类型：
--
作者：
Groza T;Hunter J;Zankl A
骨骼发育不良是一组罕见且异质的遗传性疾病，影响骨骼发育。骨骼发育不良患者患有许多复杂的医疗问题，包括退行性关节疾病和神经并发症。由于与该领域相关的数据和专业知识既稀疏又分散，因此本体的可用性可能会带来巨大的好处，该本体提供了领域知识的共享概念化，并支持跨相关但分布式数据源的数据集成、交叉引用和高级推理。我们介绍了骨发育不良本体的设计考虑和实现细节。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的表示以及相关的基因型和表型。然后，我们简要描述 SKELETOME，这是一个以骨发育不良本体论为基础的社区驱动的知识管理平台。 SKELETOME 使领域专家能够在没有任何本体工程经验的情况下使用、完善、扩展和应用本体，从而推进骨骼发育不良领域的知识体系。骨发育不良本体代表了骨骼发育不良领域最全面的结构化知识源。它提供了整合和注释临床和研究数据的方法，不仅在通用领域知识层面，而且在个体患者案例研究层面。它基于社区驱动的管理流程，实现了个体案例与公开可用的基因型和表型资源之间的联系，确保了领域知识的共享概念化及其持续增量演化。
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.
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影响因子：
2
作者：
Warman, Matthew L.;Cormier-Daire, Valerie;Hall, Christine;Krakow, Deborah;Lachman, Ralph;LeMerrer, Martine;Mortier, Geert;Mundlos, Stefan;Nishimura, Gen;Rimoin, David L.;Robertson, Stephen;Savarirayan, Ravi;Sillence, David;Spranger, Juergen;Unger, Sheila;Zabel, Bernhard;Superti-Furga, Andrea
通讯作者：
Superti-Furga, Andrea
影响因子：
46.9
作者：
Smith, Barry;Ashburner, Michael;Lewis, Suzanna
通讯作者：
Lewis, Suzanna
影响因子：
9.5
作者：
Ruttenberg, Alan;Rees, Jonathan A.;Marshall, M. Scott
通讯作者：
Marshall, M. Scott
影响因子：
14.9
作者：
Noy NF;Shah NH;Whetzel PL;Dai B;Dorf M;Griffith N;Jonquet C;Rubin DL;Storey MA;Chute CG;Musen MA
通讯作者：
Musen MA
影响因子：
5.2
作者：
Gray, Mary J.;Kim, Chong Ae;Robertson, Stephen P.
通讯作者：
Robertson, Stephen P.