[general] #parameters chrLenFile and ploidy are required. chrLenFile = test/hs18_chr.len ploidy = 2 #Parameter "breakPointThreshold" specifies the maximal slope of the slope of residual sum of squares. #This should be a positive value. The closer it is to Zero, the more breakpoints will be called. Its recommended value is between 0.01 and 0.08. breakPointThreshold = .8 #Either coefficientOfVariation or window must be specified for whole genome sequencing data. Set window=0 for exome sequencing data. #coefficientOfVariation = 0.01 window = 50000 #step=10000 #Either chrFiles or GCcontentProfile must be specified too if no control dataset is available. #If you provide a path to chromosome files, Control-FREEC will look for the following fasta files in your directory (in this order): #1, 1.fa, 1.fasta, chr1.fa, chr1.fasta; 2, 2.fa, etc. # Please ensure that you don't have other files but sequences having the listed names in this directory. chrFiles = path/hg18 #GCcontentProfile = test/GC_profile_50kb.cnp #if you are working with something non-human, we may need to modify these parameters: #minExpectedGC = 0.35 #maxExpectedGC = 0.55 #numberOfProcesses = 4 #outputDir = test #contaminationAdjustment = TRUE #contamination = 0.4 #minMappabilityPerWindow = 0.95 #If the parameter gemMappabilityFile is not specified, then the fraction of non-N nucleotides per window is used as Mappability. #gemMappabilityFile = /GEM_mappability/out76.gem #breakPointType = 4 #forceGCcontentNormalization = 1 #sex=XY #set BedGraphOutput=TRUE if you want to create a BedGraph track for visualization in the UCSC genome browser: #BedGraphOutput=TRUE [sample] mateFile = /path/sample.bam #mateCopyNumberFile = test/sample.cpn inputFormat = BAM mateOrientation = RF [control] #mateFile = /path/control.sam #mateCopyNumberFile = path/control.cpn #inputFormat = SAM #use "mateOrientation=0" for sorted .SAM and .BAM #mateOrientation = RF #[BAF] #use the following options to calculate B allele frequency profiles and genotype status. This option can only be used if "inputFormat=pileup" #SNPfile = /bioinfo/users/vboeva/Desktop/annotations/hg19_snp131.SingleDiNucl.1based.txt #minimalCoveragePerPosition = 5 #use "minimalQualityPerPosition" and "shiftInQuality" to consider only high quality position in calculation of allelic frequencies (this option significantly slows down reading of .pileup) #minimalQualityPerPosition = 5 #shiftInQuality = 33 [target] #use a tab-delimited .BED file to specify capture regions (control dataset is needed to use this option): #captureRegions = /bioinfo/users/vboeva/Desktop/testChr19/capture.bed