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@UCI-GREGoR

UCI-GREGoR

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UCI-GREGoR

To accelerate the pace of Mendelian disease gene discovery and clinical implementation, we created a Pediatric Mendelian Genomics Research Center (MGRC), leveraging the broad pediatric clinical and research expertise and expertise in providing comprehensive and affordable genetic testing. Our Center unites world class experts combining basic and translational research with innovative approaches to phenotyping, variant identification and functional investigation of both coding and non-coding sequence changes with the goals of discovering novel Mendelian gene variations and identifying variants not detected on current sequencing pipelines, disambiguating uncertain variants into disease-causing versus benign categorizations, and sharing information by working collaboratively with the MGRC community.

Popular repositories Loading

  1. wgs-calling wgs-calling Public

    Short read WGS calling for PMGRC/GREGoR

    Python 1 2

  2. wgs-downstream wgs-downstream Public

    Assorted short read WGS post-alignment tooling

    Python 1 1

  3. wgs-validation wgs-validation Public

    Snakemake workflow for validation of variant calls

    Python 1 2

  4. .github .github Public

  5. WDLs WDLs Public

    Collection of WDLs for use on AnVIL and other cloud platforms. Includes configurations for post-secondary-analysis tools.

    Python

  6. mitochondria_m2_wdl mitochondria_m2_wdl Public

    Python

Repositories

Showing 8 of 8 repositories
  • wgs-downstream Public

    Assorted short read WGS post-alignment tooling

    UCI-GREGoR/wgs-downstream’s past year of commit activity
    Python 1 MIT 1 1 0 Updated Jan 24, 2025
  • gregor_data_models Public Forked from UW-GAC/gregor_data_models

    A repository for version control of consortium data model(s)

    UCI-GREGoR/gregor_data_models’s past year of commit activity
    Jupyter Notebook 0 MIT 4 0 0 Updated Jan 15, 2025
  • warp Public Forked from broadinstitute/warp

    WDL Analysis Research Pipelines

    UCI-GREGoR/warp’s past year of commit activity
    WDL 0 BSD-3-Clause 103 0 0 Updated Jan 6, 2025
  • mitochondria_m2_wdl Public
    UCI-GREGoR/mitochondria_m2_wdl’s past year of commit activity
    Python 0 MIT 0 1 0 Updated Dec 3, 2024
  • WDLs Public

    Collection of WDLs for use on AnVIL and other cloud platforms. Includes configurations for post-secondary-analysis tools.

    UCI-GREGoR/WDLs’s past year of commit activity
    Python 0 MIT 0 0 (1 issue needs help) 0 Updated Oct 24, 2024
  • wgs-calling Public

    Short read WGS calling for PMGRC/GREGoR

    UCI-GREGoR/wgs-calling’s past year of commit activity
    Python 1 MIT 2 5 0 Updated Sep 13, 2024
  • wgs-validation Public

    Snakemake workflow for validation of variant calls

    UCI-GREGoR/wgs-validation’s past year of commit activity
    Python 1 MIT 2 11 (1 issue needs help) 0 Updated Aug 13, 2024
  • .github Public
    UCI-GREGoR/.github’s past year of commit activity
    0 0 0 0 Updated Dec 11, 2023

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