Software Tools

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The Parabricks somatic (Somatic Variant Caller), germline (GATK Germline Pipeline) and deepvariant_germline tools are collections of several other individual tools that are commonly used together, all wrapped up as a single tool. For example, the deepvariant_germline takes FASTA and FASTQ files as input and produces a VCF and BAM file as output. Internally, it runs BWA mem alignment, performs coordinate sorting, marks duplicates, and then runs DeepVariant.

The following tools are available in the NVIDIA Parabricks software. Click on one of the tool names below for tool-specific options.

ToolDetails
applybqsrApply BQSR report to a BAM file and generate a new BAM file
bam2fqConvert a BAM file to FASTQ
bammetricsCollect WGS Metrics on a BAM file
bamsortSort a BAM file
bqsrCollect BQSR report on a BAM file
collectmultiplemetricsCollect multiple classes of metrics on a BAM file
dbsnpAnnotate variants based on a dbsnp
deepsomaticRun GPU-DeepSomatic for calling somatic variants
deepvariantRun GPU-DeepVariant for calling germline variants
deepvariant_germlineRun the germline pipeline from FASTQ to VCF using a deep neural network analysis
fq2bam (BWA-MEM + GATK)Run bwa mem, co-ordinate sorting, marking duplicates, and Base Quality Score Recalibration
fq2bam_methRun GPU-accelerated bwa-meth compatible alignment, co-ordinate sorting, marking duplicates, and Base Quality Score Recalibration
genotypegvcfConvert a GVCF to VCF
germline (GATK Germline Pipeline)Run the germline pipeline from FASTQ to VCF
giraffe (vg giraffe + GATK)Run GPU-accelerated VG-giraffe compatible pangenome alignment and co-ordinate sorting
haplotypecallerRun GPU-HaplotypeCaller for calling germline variants
indexgvcfIndex a GVCF file
markdupIdentifies duplicate reads
minimap2Align long read sequences against a large reference database to convert FASTQ to BAM/CRAM
mutectcallerRun GPU-Mutect2 for tumor-normal analysis
ont_germlineRun the germline pipeline from FASTQ/BAM to VCF by aligning long read ONT sequences with minimap2 and using a deep neural network analysis
pacbio_germlineRun the germline pipeline from FASTQ/BAM to VCF by aligning long read sequences with minimap2 and using a deep neural network analysis
pangenome_aware_deepvariantRun GPU-Pangenome-aware-deepvariant that uses a pangenome reference for calling germline variants
pangenome_germlineRun the germline pipeline from FASTQ to VCF using pangenome alignment (Giraffe) and pangenome-aware DeepVariant
postponGenerate the final VCF output of doing mutect pon
preponBuild an index for PON file, which is the prerequisite to performing mutect pon
rna_fq2bamRun RNA-seq data through the fq2bam pipeline
somatic (Somatic Variant Caller)Run the somatic pipeline from FASTQ to VCF
starfusionIdentify candidate fusion transcripts supported by Illumina reads