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    • HTML
      Apache License 2.0
      5800Updated Apr 22, 2026Apr 22, 2026
    • PrimateAI

      Public archive
      deep residual neural network for classifying the pathogenicity of missense mutations.
      Python
      Other
      3211560Updated Apr 20, 2026Apr 20, 2026
    • interop

      Public archive
      C++ Library to parse Illumina InterOp files
      C++
      Other
      288250Updated Apr 20, 2026Apr 20, 2026
    • Nirvana

      Public archive
      The nimble & robust variant annotator
      C#
      Other
      50195395Updated Apr 20, 2026Apr 20, 2026
    • REViewer

      Public archive
      A tool for visualizing alignments of reads in regions containing tandem repeats
      C++
      Other
      1790350Updated Apr 20, 2026Apr 20, 2026
    • akt

      Public archive
      Ancestry and Kinship Tools
      C++
      Other
      147072Updated Apr 20, 2026Apr 20, 2026
    • BlockCompression

      Public archive
      Block compression library used by Nirvana
      C++
      Other
      1300Updated Apr 20, 2026Apr 20, 2026
    • Pisces

      Public archive
      Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
      C#
      Other
      1699552Updated Apr 20, 2026Apr 20, 2026
    • NeoMutalyzer

      Public archive
      Inspired by Mutalyzer and frustrated by RefSeq, we created this transcript annotation validator
      C#
      Other
      0400Updated Apr 20, 2026Apr 20, 2026
    • Isaac4

      Public archive
      Isaac aligner version 4
      C++
      Other
      31970Updated Apr 20, 2026Apr 20, 2026
    • strelka

      Public archive
      Strelka2 germline and somatic small variant caller
      C++
      Other
      1073931355Updated Apr 20, 2026Apr 20, 2026
    • GffCreator

      Public archive
      Creates GFF files from Nirvana cache files
      C#
      Other
      0000Updated Apr 20, 2026Apr 20, 2026
    • SlimCache

      Public archive
      Nirvana tool that creates RefSeq- or Ensembl-specific cache files
      C#
      Other
      0000Updated Apr 20, 2026Apr 20, 2026
    • CacheUtils

      Public archive
      Creates new Nirvana gene & transcript cache files
      Other
      0000Updated Apr 20, 2026Apr 20, 2026
    • API libraries, application examples, and custom tools for BaseSpace Clarity LIMS
      Python
      Other
      91912Updated Apr 20, 2026Apr 20, 2026
    • canvas

      Public archive
      Canvas - Copy number variant (CNV) calling from DNA sequencing data
      C#
      Other
      20129400Updated Apr 20, 2026Apr 20, 2026
    • Isaac3

      Public archive
      Aligner for sequencing data
      C++
      Other
      21820Updated Apr 20, 2026Apr 20, 2026
    • tHapMix

      Public archive
      Haplotype-based somatic genome simulator
      Python
      Other
      21002Updated Apr 20, 2026Apr 20, 2026
    • MarViN

      Public archive
      C++
      Other
      2510Updated Apr 20, 2026Apr 20, 2026
    • isaac2

      Public archive
      Aligner for sequencing data
      C++
      Other
      32100Updated Apr 20, 2026Apr 20, 2026
    • Python
      Other
      113551Updated Apr 20, 2026Apr 20, 2026
    • Python
      Other
      159600Updated Apr 3, 2026Apr 3, 2026
    • SpliceAI

      Public archive
      A deep learning-based tool to identify splice variants
      Python
      Other
      175492324Updated Apr 3, 2026Apr 3, 2026
    • Python
      Other
      137460Updated Mar 13, 2026Mar 13, 2026
    • MDX
      1320Updated Jan 24, 2026Jan 24, 2026
    • GTCtoVCF

      Public archive
      Script to convert GTC/BPM files to VCF
      Python
      Apache License 2.0
      3048161Updated Oct 13, 2025Oct 13, 2025
    • manta

      Public archive
      Structural variant and indel caller for mapped sequencing data
      C++
      Other
      1564621282Updated Oct 11, 2025Oct 11, 2025
    • Python library to parse file formats related to Illumina bead arrays
      Python
      3548152Updated Jan 30, 2025Jan 30, 2025
    • Shell
      Other
      0400Updated Sep 27, 2024Sep 27, 2024
    • HTML
      0310Updated Sep 13, 2024Sep 13, 2024
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