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    • cieinr

      Public
      repository for the Canadian Inborn Errors of Immunity National Registry (CIEINR)
      Python
      0020Updated Jul 2, 2025Jul 2, 2025
    • irud_keio

      Public
      Python
      0250Updated Jun 26, 2025Jun 26, 2025
    • UTN

      Public
      HTML
      0100Updated Jun 18, 2025Jun 18, 2025
    • GLSL
      0200Updated Jun 11, 2025Jun 11, 2025
    • GLSL
      0000Updated Jun 4, 2025Jun 4, 2025
    • rarelink

      Public
      RareLink - A REDCap-based framework linking international registries toFHIR and Phenopackets
      HTML
      1460Updated Jun 3, 2025Jun 3, 2025
    • Jupyter Notebook
      0000Updated Apr 22, 2025Apr 22, 2025
    • rd-cdm

      Public
      Repo for the ontology-based rare disease common data model harmonising international registry use, FHIR, and Phenopackets
      Python
      0750Updated Mar 13, 2025Mar 13, 2025
    • CRISP

      Public
      HTML
      0000Updated Feb 6, 2025Feb 6, 2025
    • A pipeline of ERKER data into the phenopackets data structure.
      Python
      0490Updated Jan 28, 2025Jan 28, 2025
    • DIMIS

      Public
      0000Updated Dec 4, 2024Dec 4, 2024
    • A Python library to map from any bespoke tabular data format to the GA4GH Phenopacket schema.
      Python
      00240Updated Oct 18, 2024Oct 18, 2024
    • ERKER

      Public
      ERKER - ERDRI-CDS kompatible Erfassung in REDCap
      Jupyter Notebook
      02120Updated Sep 18, 2024Sep 18, 2024
    • Genotype Phenotype Correlation
      Jupyter Notebook
      1000Updated Sep 12, 2024Sep 12, 2024
    • Python Phenopacket Tools
      Python
      1000Updated Jun 5, 2024Jun 5, 2024
    • FHIR IG for Interagent
      GLSL
      0100Updated May 7, 2024May 7, 2024
    • .github

      Public
      0000Updated Sep 7, 2023Sep 7, 2023
    • Python
      0200Updated May 26, 2023May 26, 2023
    • vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
      Python
      24000Updated Apr 3, 2023Apr 3, 2023
    • BiasAI

      Public
      Analysis on Survey Bias in AI
      R
      0000Updated Mar 26, 2023Mar 26, 2023
    • GLSL
      0000Updated Mar 10, 2023Mar 10, 2023
    • Map of the Swiss Personalized Health Network Dataset to Fast Healthcare Interoperability Resources - Submission to MIE 2023 by S. Klopfenstein, S. Thun, K. Crameri and C. Stellmach
      0100Updated Mar 2, 2023Mar 2, 2023
    • Dockerfile
      0000Updated Feb 27, 2023Feb 27, 2023
    • Dockerfile
      0000Updated Feb 27, 2023Feb 27, 2023
    • Python
      0003Updated Feb 6, 2023Feb 6, 2023
    • Defines the profiles based on HiGHmed UCC model on CKM
      GLSL
      1000Updated Jan 22, 2023Jan 22, 2023
    • NAPKON GECCOplus module
      GLSL
      0600Updated Dec 9, 2022Dec 9, 2022
    • GLSL
      0100Updated Nov 28, 2022Nov 28, 2022
    • Python
      0000Updated Sep 12, 2022Sep 12, 2022
    • Python
      0100Updated Sep 12, 2022Sep 12, 2022