脊椎动物品种本体论:实现有效的品种数据标准化

Kathleen R. MullenUniversity of Colorado Anschutz Medical Campus, Imke TammenUniversity of Sydney, Nicolas A. MatentzogluSemanticly Ltd, Marius MatherUniversity of Sydney, Christopher J. MungallLawrence Berkeley National Laboratory, Melissa A. HaendelUniversity of North Carolina at Chapel Hill, Frank W. NicholasUniversity of Sydney, Sabrina ToroUniversity of North Carolina at Chapel Hill, the Vertebrate Breed Ontology Consortium
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摘要

背景:兽医科学中普遍采用的数据标准有限,这阻碍了数据的互操作性,进而阻碍了数据的整合与比较;这最终阻碍了现有信息工具的应用,无法为兽医诊断、治疗和精准医疗提供支持。目标:创建脊椎动物品种本体(VBO),作为在动物健康、生产和研究相关记录中记录品种名称的单一、连贯、基于逻辑的标准,将提高兽医和比较医学的数据使用能力。动物:本研究未使用活体动物。方法:使用人工和计算方法,从相关来源、组织、社区和专家处收集整理出一个品种名称和相关信息列表,以创建 VBO。VBO 术语使用描述逻辑进行分类,以便于计算应用和人工智能准备。成果:VBO 是一个开放的、由社区驱动的本体论,代表了涵盖 41 个物种的 19,000 多个家畜和伴侣动物品种。品种根据社区和专家的约定进行分类(如马品种、牛品种)。这种分类由 NCBI 分类学术语表示的品种属和种的关系提供支持。VBO 术语之间的关系(例如,将品种与其基础种群联系起来)提供了额外的上下文,以支持高级数据分析。VBO 术语元数据包括通用名称和同义词、品种标识符或代码,以及与其他数据库的归属交叉引用。结论和临床重要性:采用 VBO 作为数据库和兽医电子健康记录中标准品种名称的来源,可以提高兽医数据的互操作性和可计算性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Vertebrate Breed Ontology: Towards Effective Breed Data Standardization
Background: Limited universally adopted data standards in veterinary science hinders data interoperability and therefore integration and comparison; this ultimately impedes application of existing information-based tools to support advancement in veterinary diagnostics, treatments, and precision medicine. Objectives: Creation of a Vertebrate Breed Ontology (VBO) as a single, coherent logic-based standard for documenting breed names in animal health, production and research-related records will improve data use capabilities in veterinary and comparative medicine. Animals: No live animals were used in this study. Methods: A list of breed names and related information was compiled from relevant sources, organizations, communities, and experts using manual and computational approaches to create VBO. Each breed is represented by a VBO term that includes all provenance and the breed's related information as metadata. VBO terms are classified using description logic to allow computational applications and Artificial Intelligence-readiness. Results: VBO is an open, community-driven ontology representing over 19,000 livestock and companion animal breeds covering 41 species. Breeds are classified based on community and expert conventions (e.g., horse breed, cattle breed). This classification is supported by relations to the breeds' genus and species indicated by NCBI Taxonomy terms. Relationships between VBO terms, e.g. relating breeds to their foundation stock, provide additional context to support advanced data analytics. VBO term metadata includes common names and synonyms, breed identifiers or codes, and attributed cross-references to other databases. Conclusion and clinical importance: Veterinary data interoperability and computability can be enhanced by the adoption of VBO as a source of standard breed names in databases and veterinary electronic health records.
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