RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

ABSTRACT: While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an open-source framework implementing our published ontology-based rare disease common data model. It enables standardised data exchange between REDCap, international registries, and downstream analysis tools by linking Global Alliance for Genomics and Health Phenopackets and Health Level 7 Fast Healthcare Interoperability Resources (FHIR) instances conforming to International Patient Summary and Genomics Reporting profiles. RareLink was developed in three phases across Germany, Canada, South Africa, and Japan for registry and data analysis purposes. We defin

SUBMITTER: Graefe ASL 

PROVIDER: S-EPMC12627670 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature