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    53 repositories

    • dragen-aws-batch-quickstart

      Public
      HTML
      •
      Apache License 2.0
      •5•8•0•0•Updated Apr 22, 2026Apr 22, 2026

    • PrimateAI

      Public archive
      deep residual neural network for classifying the pathogenicity of missense mutations.
      Python
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      Other
      •32•115•6•0•Updated Apr 20, 2026Apr 20, 2026

    • interop

      Public archive
      C++ Library to parse Illumina InterOp files
      pythoncsharpcpp
      pythoncsharpcpppython3interopswigpython27python35python36illumina-sequencing
      C++
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      Other
      •28•82•5•0•Updated Apr 20, 2026Apr 20, 2026

    • Nirvana

      Public archive
      The nimble & robust variant annotator
      C#
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      Other
      •50•195•39•5•Updated Apr 20, 2026Apr 20, 2026

    • REViewer

      Public archive
      A tool for visualizing alignments of reads in regions containing tandem repeats
      C++
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      Other
      •17•90•35•0•Updated Apr 20, 2026Apr 20, 2026

    • akt

      Public archive
      Ancestry and Kinship Tools
      C++
      •
      Other
      •14•70•7•2•Updated Apr 20, 2026Apr 20, 2026

    • BlockCompression

      Public archive
      Block compression library used by Nirvana
      C++
      •
      Other
      •1•3•0•0•Updated Apr 20, 2026Apr 20, 2026

    • Pisces

      Public archive
      Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.
      C#
      •
      Other
      •16•99•55•2•Updated Apr 20, 2026Apr 20, 2026

    • NeoMutalyzer

      Public archive
      Inspired by Mutalyzer and frustrated by RefSeq, we created this transcript annotation validator
      C#
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      Other
      •0•4•0•0•Updated Apr 20, 2026Apr 20, 2026

    • Isaac4

      Public archive
      Isaac aligner version 4
      C++
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      Other
      •3•19•7•0•Updated Apr 20, 2026Apr 20, 2026

    • strelka

      Public archive
      Strelka2 germline and somatic small variant caller
      bioinformaticssnpsindels
      bioinformaticssnpsindelssnvs
      C++
      •
      Other
      •107•393•135•5•Updated Apr 20, 2026Apr 20, 2026

    • GffCreator

      Public archive
      Creates GFF files from Nirvana cache files
      C#
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      Other
      •0•0•0•0•Updated Apr 20, 2026Apr 20, 2026

    • SlimCache

      Public archive
      Nirvana tool that creates RefSeq- or Ensembl-specific cache files
      C#
      •
      Other
      •0•0•0•0•Updated Apr 20, 2026Apr 20, 2026

    • CacheUtils

      Public archive
      Creates new Nirvana gene & transcript cache files
      Other
      •0•0•0•0•Updated Apr 20, 2026Apr 20, 2026

    • BaseSpace_Clarity_LIMS

      Public archive
      API libraries, application examples, and custom tools for BaseSpace Clarity LIMS
      Python
      •
      Other
      •9•19•1•2•Updated Apr 20, 2026Apr 20, 2026

    • canvas

      Public archive
      Canvas - Copy number variant (CNV) calling from DNA sequencing data
      C#
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      Other
      •20•129•40•0•Updated Apr 20, 2026Apr 20, 2026

    • Isaac3

      Public archive
      Aligner for sequencing data
      C++
      •
      Other
      •2•18•2•0•Updated Apr 20, 2026Apr 20, 2026

    • tHapMix

      Public archive
      Haplotype-based somatic genome simulator
      Python
      •
      Other
      •2•10•0•2•Updated Apr 20, 2026Apr 20, 2026

    • MarViN

      Public archive
      C++
      •
      Other
      •2•5•1•0•Updated Apr 20, 2026Apr 20, 2026

    • isaac2

      Public archive
      Aligner for sequencing data
      C++
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      Other
      •3•21•0•0•Updated Apr 20, 2026Apr 20, 2026

    • GraphAlignmentViewer

      Public
      Python
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      Other
      •11•35•5•1•Updated Apr 20, 2026Apr 20, 2026

    • PromoterAI

      Public
      Python
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      Other
      •15•96•0•0•Updated Apr 3, 2026Apr 3, 2026

    • SpliceAI

      Public archive
      A deep learning-based tool to identify splice variants
      Python
      •
      Other
      •175•492•32•4•Updated Apr 3, 2026Apr 3, 2026

    • PrimateAI-3D

      Public
      Python
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      Other
      •13•74•6•0•Updated Mar 13, 2026Mar 13, 2026

    • IlluminaConnectedAnnotationsDocumentation

      Public archive
      MDX
      •1•3•2•0•Updated Jan 24, 2026Jan 24, 2026

    • GTCtoVCF

      Public archive
      Script to convert GTC/BPM files to VCF
      Python
      •
      Apache License 2.0
      •30•48•16•1•Updated Oct 13, 2025Oct 13, 2025

    • manta

      Public archive
      Structural variant and indel caller for mapped sequencing data
      bioinformaticsstructural-variationsindels
      bioinformaticsstructural-variationsindelsstructural-variation
      C++
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      Other
      •156•462•128•2•Updated Oct 11, 2025Oct 11, 2025

    • BeadArrayFiles

      Public
      Python library to parse file formats related to Illumina bead arrays
      Python
      •35•48•15•2•Updated Jan 30, 2025Jan 30, 2025

    • Bench-Example-Images

      Public
      Shell
      •
      Other
      •0•4•0•0•Updated Sep 27, 2024Sep 27, 2024

    • dragen-azure-quickstart

      Public
      HTML
      •0•3•1•0•Updated Sep 13, 2024Sep 13, 2024
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