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hap.py
Haplotype VCF comparison toolsmanta
Structural variant and indel caller for mapped sequencing dataSpliceAI
A deep learning-based tool to identify splice variantsstrelka
Strelka2 germline and somatic small variant callerExpansionHunter
A tool for estimating repeat sizesNirvana
The nimble & robust variant annotatorDRAGMAP
DRAGEN open-source mapperparagraph
Graph realignment tools for structural variantspyflow
A lightweight parallel task enginecanvas
Canvas - Copy number variant (CNV) calling from DNA sequencing dataPrimateAI
deep residual neural network for classifying the pathogenicity of missense mutations.Pisces
Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.PlatinumGenomes
The Platinum Genomes TruthsetExpansionHunterDenovo
A suite of tools for detecting expansions of short tandem repeatsinterop
C++ Library to parse Illumina InterOp filesREViewer
A tool for visualizing alignments of reads in regions containing tandem repeatsakt
Ancestry and Kinship ToolsPrimateAI-3D
Polaris
Data and information about the Polaris studySMNCopyNumberCaller
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGSCyrius
A tool to genotype CYP2D6 with WGS dataBeadArrayFiles
Python library to parse file formats related to Illumina bead arraysGTCtoVCF
Script to convert GTC/BPM files to VCFGraphAlignmentViewer
gvcfgenotyper
A utility for merging and genotyping Illumina-style GVCFs.witty.er
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.isaac2
Aligner for sequencing dataGauchian
A variant caller for the GBA gene using WGS dataBaseSpace_Clarity_LIMS
API libraries, application examples, and custom tools for BaseSpace Clarity LIMSIsaac3
Aligner for sequencing dataRepeatCatalogs
Isaac4
Isaac aligner version 4happyR
R tools to interact with hap.py outputagg
gvcf aggregation tooltHapMix
Haplotype-based somatic genome simulatorhappyCompare
Reporting toolbox for happy outputMarViN
ica-sdk-python
NirvanaDocumentation
novaseq-lims-api
Documentation and tools for users of the NovaSeq LIMS APINeoMutalyzer
Inspired by Mutalyzer and frustrated by RefSeq, we created this transcript annotation validatordragen-azure-quickstart
Pelops
licenses
BlockCompression
Block compression library used by Nirvanadragen-aws-batch-quickstart
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