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@InformaticsGenomicMedicine

The Freimuth Laboratory: Informatics of Genomic Medicine

The Freimuth lab at Mayo Clinic develops technologies that enable researchers and physicians to use genomic data to improve health.

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  1. Genomic_Study_GTR_pilot Genomic_Study_GTR_pilot Public

    Providing NCBI Genetic Testing Registry as FHIR resources, mainly the FHIR R5 Genomic Study resource and some supporting resources

    Java 1 1

  2. HL7-CG-Models HL7-CG-Models Public

    GLSL 2

  3. biocommons-anyvar biocommons-anyvar Public

    Forked from biocommons/anyvar

    [in development] Proof-of-Concept variation translation, validation, and registration service

    Python

  4. biocommons-hgvs biocommons-hgvs Public

    Forked from biocommons/hgvs

    Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

    Python

  5. ga4gh-vrs-python ga4gh-vrs-python Public

    Forked from ga4gh/vrs-python

    GA4GH Variation Representation Python Implementation

    Jupyter Notebook

  6. ga4gh-vrs ga4gh-vrs Public

    Forked from ga4gh/vrs

    Extensible specification for representing and uniquely identifying biological sequence variation

    Jupyter Notebook

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