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

项目摘要 HL 7快速医疗保健互操作性资源（FHIR）是一个新兴的下一代标准框架， 电子健康记录（EHR）数据交换。FHIR规范定义了一个通用词汇表 以及用于共享EHR数据的机制，而与其实际存储方式无关。所有主要的EHR供应商 正在为其临床数据开发标准化的FHIR接口。FHIR的一个令人兴奋的方面是， 是第一批纳入Tim描述的“语义网”愿景的临床数据标准之一 Berners-Lee在他2001年的文章中经常被引用。在这篇文章中，他断言语义网是下一个“杀手 应用程序”，并概述了成功的公式：1）代表信息和意义在一个单一的，通用的格式- 资源描述框架（RDF）; 2）创建URI的目录，这些URI用作 在给定的使用环境中的RDF表示; 3）创建用于转换现有数据和知识的工具 资源转换为通用语言RDF和URI。这允许来自不同来源的信息， 这些结构被组合成一个单一的、联合的“链接开放数据”集合。这种链接数据模型 允许临床数据与其他相关数据相结合，如环境，遗传，地理等。 其他相关数据，并作为一个整体进行分析。我们以前已经证明， RDF、OWL语义和形状表达式（ShEx）模式语言的组合理论上可以 提供了一个强大的平台，用于将不同的数据模型和范例集成到一个单一的资源 面向接口的集合。本项目的目标是设计、开发和评估一种新的 信息平台，称为FHIRCat，利用语义Web技术、FHIR模型/配置文件， 用于有效的基于标准的数据集成和分布式分析的本体， 可重复的临床和转化研究。我们的具体目标是：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 外部模型和FHIR之间的关系; 3）构建和评估基于本体的FHIR数据访问（OBDA） 与CTSA国家合作，系统可与跨机构的临床数据存储库进行互操作 健康数据中心（CD 2 H）该项目的成果使伯纳斯-李的愿景得以实现 在不久的将来，为医疗保健，反过来创造新的机会，推进FHIR的自动化- 基于临床数据的集成和共享，加速基于标准的数据发现和分布式 临床和转化研究中的分析。 1

Project Summary HL7 Fast Healthcare Interoperability Resources (FHIR) is an emerging next generation standard framework for the exchange of electronic health record (EHR) data. The FHIR specification defines a common vocabulary and mechanism for sharing EHR data independent of how it is actually stored. All of the major EHR vendors are developing standardized FHIR interfaces to their clinical data. One of the exciting aspects of FHIR is that it is among the first clinical data standards to incorporate the vision of the “Semantic Web” described by Tim Berners-Lee in his oft cited article from 2001. In the article, 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 other linked data such as environmental, genetic, geographic, and any other relevant data and to be analyzed as an integrated whole. We have previously demonstrated that the combination of RDF, OWL semantics, and the Shape Expressions (ShEx) schema language could theoretically provide a robust platform for integrating disparate data models and paradigms under a single, resource oriented collection of interfaces. The objective of this project is to design, develop and evaluate a novel informatics platform known as FHIRCat that leverages Semantic Web technologies, FHIR models/profiles, and ontologies for effective standards-based data integration and distributed analytics, 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 and evaluate a FHIR ontology-based data access (OBDA) system interoperable with clinical data repositories across institutions in partnership with the CTSA National Center for Data to Health (CD2H). 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 distributed analytics in clinical and translational research. 1