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Enabling Online Studies of Conceptual Relationships Between Medical Terms: Developing an Efficient Web Platform

机译：支持在线研究医学术语之间的概念关系：开发有效的Web平台

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Background The Unified Medical Language System (UMLS) contains many important ontologies in which terms are connected by semantic relations. For many studies on the relationships between biomedical concepts, the use of transitively associated information from ontologies and the UMLS has been shown to be effective. Although there are a few tools and methods available for extracting transitive relationships from the UMLS, they usually have major restrictions on the length of transitive relations or on the number of data sources. Objective Our goal was to design an efficient online platform that enables efficient studies on the conceptual relationships between any medical terms. Methods To overcome the restrictions of available methods and to facilitate studies on the conceptual relationships between medical terms, we developed a Web platform, onGrid, that supports efficient transitive queries and conceptual relationship studies using the UMLS. This framework uses the latest technique in converting natural language queries into UMLS concepts, performs efficient transitive queries, and visualizes the result paths. It also dynamically builds a relationship matrix for two sets of input biomedical terms. We are thus able to perform effective studies on conceptual relationships between medical terms based on their relationship matrix. Results The advantage of onGrid is that it can be applied to study any two sets of biomedical concept relations and the relations within one set of biomedical concepts. We use onGrid to study the disease-disease relationships in the Online Mendelian Inheritance in Man (OMIM). By crossvalidating our results with an external database, the Comparative Toxicogenomics Database (CTD), we demonstrated that onGrid is effective for the study of conceptual relationships between medical terms. Conclusions onGrid is an efficient tool for querying the UMLS for transitive relations, studying the relationship between medical terms, and generating hypotheses.
机译：背景技术统一医学语言系统（UMLS）包含许多重要的本体，其中术语通过语义关系进行连接。对于许多有关生物医学概念之间关系的研究，已证明使用来自本体和UMLS的传递相关信息是有效的。尽管有一些工具和方法可用于从UMLS中提取传递关系，但是它们通常对传递关系的长度或数据源的数量有很大的限制。目的我们的目标是设计一个有效的在线平台，以对任何医学术语之间的概念关系进行有效的研究。方法为了克服可用方法的限制并促进对医学术语之间的概念关系的研究，我们开发了一个Web平台onGrid，该平台支持使用UMLS进行有效的传递查询和概念关系研究。该框架使用最新技术将自然语言查询转换为UMLS概念，执行有效的传递查询，并可视化结果路径。它还为两组输入的生物医学术语动态建立关系矩阵。因此，我们能够根据医学术语之间的关系矩阵对它们之间的概念关系进行有效的研究。结果onGrid的优势在于它可用于研究任何两组生物医学概念关系以及一组生物医学概念中的关系。我们使用onGrid来研究在线孟德尔男性遗传（OMIM）中的疾病-疾病关系。通过与外部数据库比较毒理基因组数据库（CTD）交叉验证我们的结果，我们证明了onGrid对于研究医学术语之间的概念关系是有效的。结论onGrid是查询UMLS的传递关系，研究医学术语之间的关系以及生成假设的有效工具。

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