Dos Santos Vieira Bruna, Groenen Karlijn, 't Hoen P A C, Jacobsen Annika, Roos Marco, Kaliyaperumal Rajaram, Kersloot Martijn, Cornet Ronald, Schultze Kool Leo
Radboud University Medical Center, Nijmegen, Netherlands.
Leiden University Medical Center, Leiden, Netherlands.
Stud Health Technol Inform. 2020 Jun 23;271:115-116. doi: 10.3233/SHTI200085.
Connecting currently existing, heterogeneous rare disease (RD) registries would greatly facilitate epidemiological and clinical research. To increase their interoperability, the European Union developed a set of Common Data Elements (CDEs) for RD registries.
To implement the CDEs and the FAIR data principles in the Registry of Vascular Anomalies (VASCA).
We created a semantic model for the CDE and transformed this into a Resource Description Framework (RDF) template. The electronic case report forms (eCRF) were mapped to the RDF template and published in a FAIR Data Point (FDP).
The FAIR VASCA registry was successfully implemented using Castor EDC (Electronic Data Capture) software.
FAIR technology allows researchers to query and combine data from different registries in real-time.
连接当前现有的、异构的罕见病（RD）注册库将极大地促进流行病学和临床研究。为提高其互操作性，欧盟为罕见病注册库制定了一套通用数据元素（CDE）。
在血管异常注册库（VASCA）中实施CDE和FAIR数据原则。
我们为CDE创建了一个语义模型，并将其转换为资源描述框架（RDF）模板。电子病例报告表（eCRF）被映射到RDF模板并发布在FAIR数据点（FDP）中。
使用Castor EDC（电子数据采集）软件成功实施了FAIR VASCA注册库。
FAIR技术使研究人员能够实时查询和合并来自不同注册库的数据。
