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Workflow processes

Several processes are run within the workflow. We divide them for the moment into 5 main steps:

Preprocessing:

  • MapReads - Map reads with BWA
  • MergeBams - Merge BAMs if multilane samples
  • MarkDuplicates - Mark Duplicates with Picard
  • RealignerTargetCreator - Create realignment target intervals
  • IndelRealigner - Realign BAMs as T/N pair
  • CreateRecalibrationTable - Create Recalibration Table with BaseRecalibrator
  • RecalibrateBam - Recalibrate Bam with PrintReads

Germline Variant Calling:

  • CreateIntervalBeds - Create and sort intervals into bed files
  • RunHaplotypecaller - Run HaplotypeCaller for GermLine Variant Calling (Parallelized processes)
  • RunGenotypeGVCFs - Run HaplotypeCaller for GermLine Variant Calling (Parallelized processes)
  • ConcatVCF - Merge results from HaplotypeCaller
  • RunSingleStrelka - Run Strelka for Germline Variant Calling
  • RunSingleManta - Run Manta for Single Structural Variant Calling

Somatic Variant Calling:

  • CreateIntervalBeds - Create and sort intervals into bed files
  • RunMutect1 - Run MuTect1 for Variant Calling (Parallelized processes)
  • RunMutect2 - Run MuTect2 for Variant Calling (Parallelized processes)
  • RunFreeBayes - Run FreeBayes for Variant Calling (Parallelized processes)
  • ConcatVCF - Merge results from Freebayes, MuTect1 and MuTect2
  • RunStrelka - Run Strelka for Variant Calling
  • RunManta - Run Manta for Structural Variant Calling
  • RunSingleManta - Run Manta for Single Structural Variant Calling
  • RunAlleleCount - Run AlleleCount to prepare for ASCAT
  • RunConvertAlleleCounts - Run convertAlleleCounts to prepare for ASCAT
  • RunAscat - Run ASCAT for CNV

Report and QC:

  • RunFastQC - Run FastQC for QC on fastq files
  • RunSamtoolsStats - Run Samtools stats on recalibrated BAM files
  • RunBamQC - Run qualimap BamQC on recalibrated BAM files
  • RunBcftoolsStats - Run BCFTools stats on vcf files
  • RunVcftools - Run VCFTools on vcf files

Annotation:

  • RunSnpeff - Run snpEff for annotation of vcf files
  • RunVEP - Run VEP for annotation of vcf files