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config.yaml
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## path to tools
samTools: /path/to/samtools
bcfTools: /path/to/bcftools
## path to scripts ##
readCounterScript: /path/to/readCounter
ichorCNA_rscript: /path/to/ichorCNA.R
ichorCNA_libdir: /path/to/ichorCNA_code
pyCountScript: code/countPysam.py
TitanCNA_rscript: ../R_scripts/titanCNA.R
TitanCNA_combineTitanIchorCNA: code/combineTITAN-ichor.R
TitanCNA_selectSolutionRscript: ../R_scripts/selectSolution.R
TitanCNA_libdir: ../../R/
## reference settings and paths to reference files ##
genomeBuild: hg19
genomeStyle: NCBI
refFasta: /path/to/Homo_sapiens_assembly19.fasta
snpVCF: /path/to/hapmap_3.3.b37.vcf.gz
ichorCNA_exons: NULL
cytobandFile: None # only need if hg38
centromere: /path/to/ichorCNA/inst/extdata/GRCh37.p13_centromere_UCSC-gapTable.txt
sex: male # use None if both females and males are in sample set
## params for each step ##
## read depth params ##
# use this for NCBI chr naming
chrs: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,X,Y
# use this for UCSC chr naming
#chrs: chr1,chr2,chr3,chr4,chr5,chr6,chr7,chr8,chr9,chr10,chr11,chr12,chr13,chr14,chr15,chr16,chr17,chr18,chr19,chr20,chr21,chr22,chrX,chrY
binSize: 10000
## ichorCNA params ##
ichorCNA_gcWig: /path/to/gc_hg19_10kb.wig
ichorCNA_mapWig: /path/to/map_hg19_10kb.wig
ichorCNA_chrs: c(1:22, \"X\")
ichorCNA_normal: c(0.5)
ichorCNA_ploidy: c(2,3)
ichorCNA_estimateNormal: TRUE
ichorCNA_estimatePloidy: TRUE
ichorCNA_estimateClonality: TRUE
ichorCNA_scStates: c(1,3)
ichorCNA_maxCN: 8
ichorCNA_includeHOMD: FALSE
ichorCNA_txnE: 0.9999
ichorCNA_txnStrength: 10000
ichorCNA_plotFileType: png
ichorCNA_plotYlim: c(-2,4)
## allele counts - samtools, pysam ##
# USERS MUST MODIFY getAlleleCounts.snakefile to use the correct CHRS naming
map_quality: 10
base_quality: 10
vcf_quality: 100
## TitanCNA params ##
TitanCNA_maxNumClonalClusters: 2
TitanCNA_chrs: c(1:22, \"X\")
TitanCNA_normalInit: 0.5
TitanCNA_maxPloidy: 3
TitanCNA_estimateNormal: map
TitanCNA_estimatePloidy: TRUE
TitanCNA_estimateClonality: TRUE
TitanCNA_alleleModel: binomial
TitanCNA_alphaK: 10000
TitanCNA_alphaR: 10000
TitanCNA_txnExpLen: 1e15
TitanCNA_plotYlim: c(-2,4)
TitanCNA_solutionThreshold: 0.05
TitanCNA_numCores: 1
## Combine TitanCNA & ichorCNA
mergeIchorHOMD: FALSE # consider setting to TRUE when working with pure tumor