FHIRCat: Enabling the Semantics of FHIR and Terminologies for Clinical and Translational Research

FHIRCat：为临床和转化研究提供 FHIR 语义和术语

• 批准号: 10005525
• 负责人: Guoqian Jiang
• 金额: $ 60.1万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-13 至 2021-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10005525
• 关键词: Automation; Catalogs; Clinical; Clinical Data; Clinical Research; Collaborations; Collection; Communities; Data; Data Analytics; Data Discovery; Data Science; Data Set; Data Sources; Databases; Electronic Health Record; Extensible Markup Language; Face; Fast Healthcare Interoperability Resources; Foundations; Future; Genetic; Geography; Goals; Healthcare; Human; Informatics; Information Resources; International; Language; Link; Modeling; Observational Study; Ontology; Outcome; Publishing; Readability; Reference Standards; Reproducibility; Research; Research Personnel; Resource Description Framework; Resources; Semantics; Shapes; Slice; Source; Standardization; Structure; System; Technology; Terminology; Translational Research; Validation; Vendor; Vision; Vocabulary; base; clinical data warehouse; computer based Semantic Analysis; data access; data exchange; data integration; data management; data modeling; data resource; data sharing; data warehouse; design; health data; information model; next generation; novel; open data; open source; success; tool

Project Summary HL7 Fast Healthcare Interoperability Resources (FHIR) is an emerging next generation standard framework for the exchange of electronic healthcare information. One of the exciting aspects of FHIR is that it is one of the first clinical data standards to incorporate the vision of the “Semantic Web” described by Tim Berners-Lee in 2001. In it, he asserts that the Semantic Web is the next "killer app" and outlines a formula for success: 1) represent information and meaning in a single, universal format - Resource Description Framework (RDF); 2) Create a catalog of URIs that serve as shared identifiers for the RDF representation in a given context of use; and 3) Create tools for transforming existing data and knowledge resources into the universal language of RDF and URIs. This allows information from disparate sources and structures to be combined into a single, federated collection of “linked open data”. This linked data model allows clinical data to be combined with environmental, genetic, geographic, and any other relevant data and to be analyzed as an integrated whole. Today, the latest FHIR release 1) can represent clinical information in RDF and 2) provides a catalog of shared standardized RDF identifiers for healthcare. Tools exist today that can transform XML, spreadsheets, databases etc. into RDF. What is still missing, however, are mechanisms that convert to and from the shared standard FHIR catalog identifiers and their equivalent in other clinical information models. We have previously demonstrated that the combination of RDF, OWL semantics and the Shape Expressions (ShEx) schema language could be an ideal platform for integrating disparate data models and paradigms under a single, resource oriented collection of interfaces, making it possible to complete Berners-Lee's vision for healthcare which, in turn, creates new opportunities for the clinical data integration and standards-based discovery and analytics for clinical and translational research. The objective of the this project is to design, develop and evaluate a novel informatics platform known as FHIRCat that leverages Semantic Web technologies, FHIR models and profiles, and ontologies for effective standards-based data integration for enabling high-quality reproducible clinical and translational research. Our specific aims are: 1) Develop FHIR ShEx/RDF specification and tools for FHIR data validation; 2) Standardize and deploy the RDF-based data transformation between external models and FHIR; and 3) Build a FHIR ontology-based data access (OBDA) system for clinical data repositories. The outcome of the project makes it possible to realize Berners-Lee's vision for healthcare in the very near future, in turn creating new opportunities for advancing the automation of FHIR- based clinical data integration and sharing, and accelerating standards-based data discovery and analytics in clinical and translational research. 1

项目摘要 HL7快速医疗保健互操作性资源（FHIR）是新兴的下一代标准框架 电子保健信息的交换。 FHIR令人兴奋的方面之一是它是 第一个临床数据标准，以纳入蒂姆·伯纳·李（Tim Berners-Lee）描述的“语义网”的愿景 2001年。在其中，他断言语义网是下一个“杀手应用程序”，概述了成功的公式：1） 以单一的通用格式表示信息和含义 - 资源描述框架（RDF）; 2） 创建一个URI目录，该目录在给定的使用环境中用作RDF表示的共享标识符； 3）创建用于将现有数据和知识资源转换为RDF通用语言的工具 和乌里斯。这允许将来自不同源和结构的信息合并为一个， 联合收集“链接的开放数据”。该链接的数据模型允许将临床数据与 环境，遗传，地理和任何其他相关数据，并将其分析为整体。 今天，最新的FHIR版本1）可以在RDF中代表临床信息，2）提供了共享的目录 医疗保健的标准化RDF标识符。今天存在的工具可以改变XML，电子表格， 数据库等到RDF。但是，仍然缺少的是转换和从共享的机制 标准FHIR目录标识符及其在其他临床信息模型中的等效物。我们以前有 证明了RDF，OWL语义和形状表达式（SHEX）模式的组合 语言可能是在一个单一的， 以资源为导向的界面收集，使得完成Berners-Lee的医疗保健愿景 反过来，这为临床数据集成和基于标准的发现创造了新的机会以及 临床和翻译研究的分析。该项目的目的是设计，开发和 评估一个被称为FHIRCAT的新颖信息平台，该平台利用语义网络技术，FHIR 模型和配置文件以及基于有效标准的数据集成的本体，以实现高质量 可再现的临床和翻译研究。我们的具体目的是：1）开发FHIR Shex/RDF FHIR数据验证的规范和工具； 2）标准化和部署基于RDF的数据转换 在外部模型和FHIR之间； 3）建立一个基于FHIR的基于本体的数据访问（OBDA）系统 临床数据存储库。该项目的结果使得有可能意识到Berners-Lee的愿景 在不久的将来，医疗保健又为促进Fhir-自动化创造了新的机会 基于临床数据集成和共享，并加速基于标准的数据发现和分析 临床和翻译研究。 1