Somatic CNVs
Akazhiel opened this issue · 1 comments
Hello!
I'm attempting to run the tool with a matched tumor-normal sample but the _CNVs file that produces is lacking the end coordinate and the somatic/germline classification.
This is the config file I'm using to run the tool:
[general]
BedGraphOutput = TRUE
chrFiles = /input/references/Homo_sapiens/GATK/GRCh37/Sequence/Chromosomes
chrLenFile = /input/hg19.fai
forceGCcontentNormalization = 1
maxThreads = 40
minimalSubclonePresence = 100
ploidy = 2
sex = XX
readCountThreshold = 50
breakPointThreshold = 1.2
breakPointType = 4
coefficientOfVariation = 0.05
gemMappabilityFile = /input/out100m2_hg19.gem
noisyData = TRUE
[control]
inputFormat = pileup
mateFile = /input/CABA_Nomal.pileup
mateOrientation = FR
[sample]
inputFormat = pileup
mateFile = /input/CABA_Tumor.pileup
mateOrientation = FR
[BAF]
SNPfile = /input/references/Homo_sapiens/GATK/GRCh37/Annotation/GATKBundle/dbsnp_138.b37.vcf
[target]
captureRegions = /refs/S07604514_hs_hg19_Padded.bed
And this is a snippet of the _CNVs file
1 210111420 1 3 gain - -1
2 224740 2 3 gain AAB 0.552902
2 10183716 2 3 gain AAB 1.79574
2 10952590 2 3 gain AAB 0.580177
2 26395942 2 3 gain AAB 0.383094
2 32713514 2 2 neutral AA 100
2 32819956 2 3 gain AAB 0.677852
2 42795780 2 3 gain AAB 0.321705
2 55599384 2 4 gain - -1
2 55645809 2 3 gain AAB 1.10152
Looking forward to hearing from you.
Thanks,
Jonatan
Edit:
Attached the stdout and stderr from the tool.
Dear Jonatan, I went through the code and I don't understand why FREEC is printing it this way.. And it is the first time I see this issue, which is quite surprising given that you use a good configuration of parameters.
One thing you could try is to delete or comment "forceGCcontentNormalization = 1" and see whether you don't get a better output with this.