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莱比锡健康图谱中的本体建模和表型查询执行。

Ontological Modelling and Execution of Phenotypic Queries in the Leipzig Health Atlas.

机构信息

Institute for Medical Informatics, Statistics and Epidemiology (IMISE), University of Leipzig, Germany.

Growth Network CrescNet, University of Leipzig, Germany.

出版信息

Stud Health Technol Inform. 2021 May 24;278:66-74. doi: 10.3233/SHTI210052.

DOI:10.3233/SHTI210052
PMID:34042877
Abstract

Sharing data is of great importance for research in medical sciences. It is the basis for reproducibility and reuse of already generated outcomes in new projects and in new contexts. FAIR data principles are the basics for sharing data. The Leipzig Health Atlas (LHA) platform follows these principles and provides data, describing metadata, and models that have been implemented in novel software tools and are available as demonstrators. LHA reuses and extends three different major components that have been previously developed by other projects. The SEEK management platform is the foundation providing a repository for archiving, presenting and secure sharing a wide range of publication results, such as published reports, (bio)medical data as well as interactive models and tools. The LHA Data Portal manages study metadata and data allowing to search for data of interest. Finally, PhenoMan is an ontological framework for phenotype modelling. This paper describes the interrelation of these three components. In particular, we use the PhenoMan to, firstly, model and represent phenotypes within the LHA platform. Then, secondly, the ontological phenotype representation can be used to generate search queries that are executed by the LHA Data Portal. The PhenoMan generates the queries in a novel domain specific query language (SDQL), which is specific for data management systems based on CDISC ODM standard, such as the LHA Data Portal. Our approach was successfully applied to represent phenotypes in the Leipzig Health Atlas with the possibility to execute corresponding queries within the LHA Data Portal.

摘要

数据共享对于医学科学研究至关重要。它是在新项目和新环境中重复使用和再利用已生成结果的基础。FAIR 数据原则是数据共享的基础。莱比锡健康图谱 (LHA) 平台遵循这些原则,并提供数据、描述元数据和模型,这些数据、描述元数据和模型已在新软件工具中实现,并作为演示提供。LHA 重用并扩展了三个先前由其他项目开发的不同主要组件。SEEK 管理平台是基础,提供了一个存储库,用于归档、呈现和安全共享各种发布成果,如已发布的报告、(生物)医学数据以及交互式模型和工具。LHA 数据门户管理研究元数据和数据,允许搜索感兴趣的数据。最后,PhenoMan 是一种用于表型建模的本体框架。本文描述了这三个组件之间的相互关系。特别是,我们使用 PhenoMan 来,首先,在 LHA 平台内对表型进行建模和表示。然后,其次,可以使用本体表型表示来生成由 LHA Data Portal 执行的搜索查询。PhenoMan 使用一种新的领域特定查询语言 (SDQL) 生成查询,该语言特定于基于 CDISC ODM 标准的数据管理系统,如 LHA Data Portal。我们的方法成功地应用于在莱比锡健康图谱中表示表型,并能够在 LHA Data Portal 中执行相应的查询。

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引用本文的文献

1
The Leipzig Health Atlas-An Open Platform to Present, Archive, and Share Biomedical Data, Analyses, and Models Online.莱比锡健康图谱——一个在线展示、存档和共享生物医学数据、分析和模型的开放式平台。
Methods Inf Med. 2022 Dec;61(S 02):e103-e115. doi: 10.1055/a-1914-1985. Epub 2022 Aug 1.