RareLink Framework
Tip
Manuscript: RareLink was recently published in npj Genomic Medicine: https://www.nature.com/articles/s41525-025-00534-z
In this section we elaborate on the development of the RareLink framework, how it is designed to facilitate the management of rare disease data, and how it supports the creation of interoperable and reusable datasets. We provide an overview of the different components of the RareLink framework, including the native REDCap sheets, the entire project set up, the supported ontologies, the GA4GH Phenopacket Schema and the HL7 FHIR standard.
Contents
- RareLink Overview
- RareLink-CDM
- Contents
- REDCap Data Dictionary
- LinkML Schema
- Rules for REDCap codes and codesystems
- REDCap Field Annotations
- RareLink-CDM Instruments
- Legend: Structure of the Schema below
- (1) Formal Criteria (
rarelink_1_formal_criteria) - (2) Personal Information (
rarelink_2_personal_information) - (3) Patient Status (
rarelink_3_patient_status) - (4) Care Pathway (
rarelink_4_care_pathway) - (5) Disease (
rarelink_5_disease) - (6.1) Genetic Findings (
rarelink_6_1_genetic_findings) - (6.2) Phenotypic Feature (
rarelink_6_2_phenotypic_feature) - (6.3) Measurements (
rarelink_6_3_measurements) - (6.4) Family History (
rarelink_6_4_family_history) - (7) Consent (
rarelink_7_consent) - (8) Disability (
rarelink_8_disability)
- RareLink CLI