Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.

ABSTRACT: While Research Electronic Data Capture (REDCap) has been widely adopted in rare disease research, its unconstrained data format often leads to implementations that lack native interoperability with global health data standards, limiting secondary data use. To address this, we developed and validated RareLink, an open-source framework implementing our previously-published ontology-based rare disease common data model, enabling standardised data exchange between REDCap, international registries, and downstream analysis tools. Its preconfigured pipelines interact with the local REDCap application programming interface and enable semi-automatic import or export of data to the Global Alliance for Genomics and Health (GA4GH) Phenopackets and Health Level 7 (HL7) Fast Healthcare Interopera

SUBMITTER: Graefe ASL 

PROVIDER: S-EPMC12083603 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature