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12 followers · 5 following
  • The Jackson Laboratory for Genomic Medicine
  • United States

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Achievement: YOLOAchievement: QuickdrawAchievement: Pull Sharkx3Achievement: Arctic Code Vault Contributor
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Achievements

Achievement: YOLOAchievement: QuickdrawAchievement: Pull Sharkx3Achievement: Arctic Code Vault Contributor
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Organizations

@monarch-initiative @TheJacksonLaboratory
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Pinned

  1. monarch-initiative/SvAnna monarch-initiative/SvAnna Public

    Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

    Java 29 4

  2. TheJacksonLaboratory/LIRICAL TheJacksonLaboratory/LIRICAL Public

    LIkelihood Ratio Interpretation of Clinical AbnormaLities

    Java 22 11

  3. monarch-initiative/Squirls monarch-initiative/Squirls Public

    Interpretable prioritization of splice variants in diagnostic next-generation sequencing

    Java 13 4

  4. phenopackets/phenopacket-tools phenopackets/phenopacket-tools Public

    An app and library for building, conversion, and validation of GA4GH Phenopackets.

    Java 10 5

  5. hpo-toolkit hpo-toolkit Public

    A toolkit for working with Human Phenotype Ontology in Python

    Python 4