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Analysis Steps and Parameters

DISABLED steps are NOT shown here.

FastQC(version: 0.10.1)

BWA-MEM(version: 0.7.8-r455)

OptionsValues
gapOpenPenalty 6
clipPenalty 5
additional
gapExtensionPenalty 1
matchScore 1
readSingletonPenalty 17
mismatchPenalty 4


Picard(subprogram: markduplicates; version: 1.112)

OptionsValues
forceRm 0


SAMtools(subprogram: filter; version: 0.1.19-44428cd)

OptionsValues
mapQ 30


SAMtools(subprogram: index; version: 0.1.19-44428cd)

GATK-Full(subprogram: realign; version: 3.1-1-g07a4bf8)

OptionsValues
maxInMemory 200000
additional -rf NotPrimaryAlignment --consensusDeterminationModel USE_READS -l ERROR
LOD 0.4


GATK-Full(subprogram: recal; version: 3.1-1-g07a4bf8)

OptionsValues
additional --disable_indel_quals -rf BadCigar -l ERROR
covariates ReadGroupCovariate,QualityScoreCovariate,ContextCovariate,CycleCovariate


GATK-Full(subprogram: HaplotypeCaller; version: 3.1-1-g07a4bf8)

OptionsValues
numBadVariants 5000
forceINDELVQSR 0
indelMaxGaussians 4
snpfilters QDFilter,QD<2.0 FSFilter,FS>60.0;MQFilter,MQ<40.0;MaqQualRankSumFilter,MappingQualityRankSum<-12.5;ReadPosFilter,ReadPosRankSum<-8.0
originalBAM 0
HCadditional -rf BadCigar -l ERROR
maxGaussians 4
filter 1
indeltsfilter 99.0
forceSNPVQSR 0
indelfilters QDFilter,QD<2.0 ReadPosFilter,ReadPosRankSum<-20.0;FSFilter,FS>200.0
annotations QD,MQRankSum,ReadPosRankSum,FS,MQ
indelNumBadVariants 1000
indelAnnotations DP,FS,MQRankSum,ReadPosRankSum
snptsfilter 99.0
clusterWindowSize 10


SAMtools(subprogram: mpileup; version: 0.1.19-44428cd)

OptionsValues
minDepth 10
minMapQBias 0
FILTERadditional
BCFadditional
minStrandBias 0.0001
bwaDownGrade 50
minEndDistBias 0.0001
minBaseQBias 1e-100
SAMadditional
originalBAM 1


VarScan(version: 2.3)

OptionsValues
minDepth 10
VARadditional
minBaseQ 20
P 0.1
minSupport 2
SAMadditional
originalBAM 1


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