Welcome to the RareLink REDCap Documentation!
RareLink is a novel framework designed for managing and processing rare disease (RD) data within the REDCap. Rare diseases affect over 260 million individuals worldwide, yet data quality and scarcity pose significant challenges in research and clinical care. RareLink aims to standardize and streamline RD data management around REDCap by providing a structured project setup that ensures consistency across data collection instruments, variables, and data dictionaries. RareLink has integrated the ontology-based rare disease common data model (RD-CDM) into its core, allowing its linkage and preconifgured export to data the standards HL7 FHIR and the GA4GH Phenopacket Schema. In the following you will find detailed information on the RareLink framework, including its background, components, installation instructions, user guide, and full examples.
Overview of the RareLink framework integrated with a local REDCap instance. The framework comprises the REDCap instruments based on the RD-CDM, the RareLink API, the toFHIR & CDIS module for export and import to HL7 FHIR IPS and Genomic Reporting Resources, and the RareLink-Phenopackets module for direct export to GA4GH Phenopackets. Additionally, the LinkML-based import mapper facilitates data import from tabular databases into REDCap, while the Manual Data Capture Guide assists with the manual data capture of RD-CDM data in a local REDCap project. The framework is also configurable for disease-specific extensions or custom data models.
Tip
Manuscript: RareLink was recently published in npj Genomic Medicine: https://www.nature.com/articles/s41525-025-00534-z
Note
Further links:
GitHub Repository: https://github.com/BIH-CEI/RareLink
FHIR Implementation Guide: https://bih-cei.github.io/rarelink/
Sections
- Background
Introduction, definitions, and explanation of all the background information, technologies, and systems used in the RareLink framework.
- RareLink Framework
Overview and detailed information on the RareLink framework, its components, and architecture.
- Installation
Installation guides for all components of the RareLink framework.
- RareLink User Guide
User guides for all components of the RareLink framework.