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@monarch-initiative @Human-Phenotype-Ontology @heliumdatacommons

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  1. monarch-initiative/PhenoteFX monarch-initiative/PhenoteFX Public

    PhenoteFX

    Java 4 1

  2. charite/jannovar charite/jannovar Public

    Annotation of VCF variants with functional impact and from databases (executable+library)

    Java 58 35

  3. ExomiserSim ExomiserSim Public

    Simulate Exomiser Runs

    Java

  4. phenotools phenotools Public

    Validation of phenopackets in C++

    C++ 2