RareLink User Guide

This section provides user guides for all components of the RareLink framework.

Contents:

• Manual Data Capture
  • General Information (please read!)
    • Types of Fields:
    • Types of Instruments:
  • (1) Formal Criteria
  • (2) Personal Information
  • (3) Patient Status
  • (4) Care Pathway
  • (5) Disease
  • (6.1) Genetic Findings
  • (6.2) Phenotypic Features
  • (6.3) Measurements
  • (6.4) Family History
  • (7) Consent
  • (8) Disability
• Semi-Automatic Import
  • Overview of Components
  • Steps When Importing Data
    • 1. Mapping
      • 1.1 Understanding the RareLink-CDM data model
      • 1.2 Mapping Your Data
    • 2. Semantic Ontology Annotation
    • 3. Preparation
    • 4. Execution and Validation
    • 5. Next Steps
  • Examples
    • Example: Adult Rare Disease Registry
  • Additional Resources
• Phenopackets Module
  • Get started
  • RareLink-CDM to Phenopackets
  • RareLink-Phenopacket engine
    • Overview
    • Phenopackets validation
    • Preconfigurations
    • Usage for other REDCap data models
      • Mapping Configuration for Custom Data Models
      • Command-Line Usage
  • All Command-Line Options
  • Mapping Configuration Structure
  • Advanced Configuration Options
  • Mapping Strategies
  • Best Practices
• Phenopacket Adapters
  • Multi-Onset Adapter
  • Ontology Routing Adapter
• Develop REDCap Instruments
  • REDCap instrument structure
  • REDCap-inherent rules
  • RareLink obligatory rules
    • 1) Data element output
    • 2) REDCap expression repository
  • RareLink optional rules
• REDCap Tools
  • API Endpoints