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  1. Clinical-Genomics/scoutClinical-Genomics/scoutPublic

    VCF visualization interface

    HTML 179 51

  2. Clinical-Genomics/strangerClinical-Genomics/strangerPublic

    Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat

    Python 42 8

  3. NBISweden/vcf2cytosureNBISweden/vcf2cytosurePublic

    Convert VCF with structural variations to CytoSure format

    Python 2 4

  4. SciLifeLab/TIDDITSciLifeLab/TIDDITPublic

    TIDDIT - structural variant calling

    Cython 80 18

  5. hbvdtoolshbvdtoolsPublic

    Human Background Variantion Database Tools

    Perl 2

  6. rhocallrhocallPublic

    Call regions of homozygosity and make tentative UPD calls

    Python 12 3