Input Parameters ========================== Multiple parameters can be set with ACEseq though not all are necessary to change. This table gives and overview and description for all available parameters .. csv-table:: "ACEseq parameters" :header: "name", "value", "type", "description" :widths: 8, 10, 10, 80 aceseqOutputDirectory,${outputAnalysisBaseDirectory}/ACEseq_${tumorSample},path, svOutputDirectory,${outputAnalysisBaseDirectory}/SV_calls,path, crestOutputDirectory,${outputAnalysisBaseDirectory}/crest,path, cnvSnpOutputDirectory,${aceseqOutputDirectory}/cnv_snp,path, imputeOutputDirectory,${aceseqOutputDirectory}/phasing,path, plotOutputDirectory,${aceseqOutputDirectory}/plots,path, runWithoutControl,false,boolean,use control for analysis (false|true) minHT,5,integer,minimum number of consecutive SNPs to be considered for haploblocks snp_min_coverage,5,integer,"minimum coverage in control for SNP" cnv_min_coverage,5000,integer,"minimum coverage for 1kb windows to be considered for merging in 10kb windows" mapping_quality,1000,integer,"minimum mapping quality for 1kb windows to be considered for merging in 10kb windows (maximum mappability)" min_windows,5,integer,minimum number of 1kb windows fullfilling cnv_min_coverage and mapping_quality to obtain merged 10kb windows min_X_ratio,0.8,float,minimum ratio for number of reads on chrY per base over number of reads per base over whole genome to be considered as female min_Y_ratio,0.12,float,minimum ratio for number of reads on chrY per base over number of reads per base over whole genome to be considered as male LOWESS_F,0.1,float,f parameter for R lowess function SCALE_FACTOR,0.9,float,scale_factor for R lowess function COVERAGEPLOT_YLIMS,4,float,ylims for Rplots in GC-bias plots FILENAME_GC_CORRECT_PLOT,${plotOutputDirectory}/${pid}_gc_corrected.png,path,"gc-bias plot, before/during/after correction" GC_bias_json_key,gc-bias,string,key in GC-bias json FILE_DENSITYBETA,${aceseqOutputDirectory}/densityBeta.pdf,path, min_DDI_length,1000,integer,minimum length for DEL/DUP/INV to be considered for breakpoint integration selSVColumn,eventScore,string,column from bedpe file to be recored in ${pid}_sv_points.txt file min_seg_width,2000,integer,segmentByPairedPSCBS() minwidth parameter in PSCBS R package undo_SD,24,integer,segmentByPairedPSCBS() undo.SD parameter in PSCBS R package pscbs_prune_height,0,integer,pruneByHClust() parameter h in PSCBS R package min_segment_map,0.6,float,minimum average mappability over segment to be kept after segmentation min_seg_length_prune,9000,integer,maximum of segment to be considered for merging to neighbouring segment prior to clustering min_num_SNPs,15,integer,maximum number of SNPs in segment to be considered for merging to neighbouring segment prior to clustering clustering,yes,string,"should segments be clustered (yes|no), coerage and BAF will be estimated and assigned clusterwide" min_cluster_number,1,integer,minimum number of clusters to be tried with BIC min_membership,0.8,float,obsolete min_distance,0.05,float,min_distance haplogroupFilePrefix,haploblocks_chr,string,prefix for file with haplogroups per chromosome haplogroupFileSuffix,txt,string,suffix for file with haplogroups per chromosome haplogroupFilePath,${imputeOutputDirectory}/${haplogroupFilePrefix},path, min_length_purity,1000000,integer,minimum length of segments to be considered for tumor cell content and ploidy estimation min_hetSNPs_purity,500,integer,minimum number of control heterozygous SNPs in segments to be considered for tumor cell content and ploidy estimation dh_stop,max,string, min_length_dh_stop,1000000,integer, dh_zero,no,string, purity_min,0.3,float,minimum tumor cell content allowed purity_max,1.0,float,i ploidy_min,1.0,float, ploidy_max,6.5,float, SNP_VCF_CNV_PATH,${cnvSnpOutputDirectory}/${pid}.chr,path,If the value is changed the value for the filename pattern MUST also be changed. SNP_VCF_CNV_PATH_STR,${SNP_VCF_CNV_PATH},string,This value must be converted to a string because of a bug. SNP_SUFFIX,snp.tab.gz,string, CHR_NR,${CHR_PREFIX}${PARM_CHR_INDEX}${CHR_SUFFIX},string, CHR_NAME,${PARM_CHR_INDEX},string, AUTOSOME_INDICES,( {1..22} ),bashArray, CREST,yes,string,include SV breakpoints in analysis (yes|no) mpileup_qual,0,integer,quality used for parameter 'Q' in samtools mpileup CNV_MPILEUP_OPTS,"""-A -R -B -Q ${mpileup_qual} -q 1 -I """,string,options for mpileup to determine which bases/reads to use FILE_VCF_SUF,vcf,string,suffix for vcf files FILE_TXT_SUF,txt,string,suffix for txt files phasedGenotypesFilePrefix,phased_chr,string,prefix for phased genotypes file unphasedGenotypesFilePrefix,unphased_chr,string,prefix for unphased genotypes file phasedGenotypesFileSuffix,${FILE_VCF_SUF},string,suffix for phased genotypes file unphasedGenotypesFileSuffix,${FILE_VCF_SUF},string,suffix for unphased genotypes file BCFTOOLS_OPTS,"""-vgN """,string,bcftools options for imputation FAKE_CONTROL_POST,.cnv.anno.tab.gz,string,suffix for chromosome wise 1kb coverage files used for fake control workflow PATIENTSEX,male,string,patient sex used in case of no control workflow (male|female|klinefelter) CNV_ANNO_SUFFIX,cnv.anno.tab.gz,string,suffix for mappability annotated chromosome-wise 1kb coverage files CNV_SUFFIX,cnv.tab.gz,string,suffix chromosome-wise 1kb coverage files FILE_UNPHASED_PRE,${imputeOutputDirectory}/${unphasedGenotypesFilePrefix},path, FILE_UNPHASED_GENOTYPE,${imputeOutputDirectory}/unphased_genotype_chr,path, FILE_PHASED_PRE,${imputeOutputDirectory}/${phasedGenotypesFilePrefix},path, FILE_PHASED_GENOTYPE,${imputeOutputDirectory}/phased_genotype_chr,path, FILE_INFO,info,string, FILE_INFO_SAMPLE,info_by_sample,string, FILE_HAPS,haps,string, FILE_HAPS_CONF,haps_confidence,string, FILE_SUMMARY,summary,string, FILE_WARNINGS,warnings,string, FILE_PART,part,string, FILE_SAMPLE_G,${imputeOutputDirectory}/sample_g.txt,path,sample_g file used by imputation on X chromosome for females MALE_FAKE_CONTROL_PRE,${pathToACEseqResults}/cnv_snp/${pid}.chr,path,path and prefix to chromosome-wise 1kb coverage file used for fake control workflow for male patients FEMALE_FAKE_CONTROL_PRE,${pathToACEseqResults}/cnv_snp/${pid}.chr,path,path and prefix to chromosome-wise 1kb coverage file used for fake control workflow for female patients PLOT_PRE,${aceseqOutputDirectory}/${pid}_plot,path, FILE_MOST_IMPORTANT_INFO_SEG_PRE,${pid}_most_important_info,string, FILE_MOST_IMPORTANT_INFO_SEG_POST,.txt,string, FILE_SEGMENT_VCF_PRE,${aceseqOutputDirectory}/${pid},path, FILE_SEGMENT_VCF_POST,.cnv.vcf,string, outputUMask,007,string, outputFileGroup,$accessGroup,,"group for output files and directories" outputAccessRights,"u+rw,g+rw,o-rwx",,"access rights for written files" outputAccessRightsForDirectories,"u+rwx,g+rwx,o-rwx",,"access rights for written directories" possibleControlSampleNamePrefixes,( blood),bashArray,"possible prefix of control bam if named ${prefix}_${pid}_$mergedBamSuffix" possibleTumorSampleNamePrefixes,( tumor ),bashArray,"same as possibleControlSampleNamePrefixes" referenceGenome_1KGRef,${path}/hs37d5.fa,path,"reference genome file" REFERENCE_GENOME,${referenceGenome_1KGRef},string, dbSNP_FILE,${path}/00-All.SNV.vcf.gz,path, MAPPABILITY_FILE,${path}/wgEncodeCrgMapabilityAlign100mer_chr.bedGraph.gz,path,"mappability file" CHROMOSOME_LENGTH_FILE,${path}/chrlengths.txt,path, REPLICATION_TIME_FILE,${path}/ReplicationTime_10cellines_mean_10KB.Rda,path,"replication timing file" GC_CONTENT_FILE,${path}/hg19_GRch37_100genomes_gc_content_10kb.txt,path, GENETIC_MAP_FILE,${path}/genetic_map_chr${CHR_NAME}_combined_b37.txt,path,"impute files" KNOWN_HAPLOTYPES_FILE,${path}/ALL.chr${CHR_NAME}.integrated_phase1_v3. 20101123.snps_indels_svs.genotypes.nomono.haplotypes.gz,path,"impute files" KNOWN_HAPLOTYPES_LEGEND_FILE,${path}ALL.chr${CHR_NAME}.integrated_phase1_v3. 20101123.snps_indels_svs.genotypes.nomono.legend.gz,path,"impute files" GENETIC_MAP_FILE_X,${path}/genetic_map_chrX_nonPAR_combined_b37.txt,path,"impute files" KNOWN_HAPLOTYPES_FILE_X,${path}/ALL_1000G_phase1integrated_v3_chrX_nonPAR_impute.hap.gz,path,"impute files" KNOWN_HAPLOTYPES_LEGEND_FILE_X,${path}/ALL_1000G_phase1integrated_v3_chrX_nonPAR_impute.legend.gz,path,"impute files" outputExecutionDirectory,${path}/exec_${executionTimeString},,"path to log files" imputeBaseDirectory,${path}/,path,"directory for impute files" mergedBamSuffix,merged.mdup.bam,string,"A list of all known suffixes for merged bam files. I.e. merged.dupmark.bam, merged.mdup.bam..." mergedBamSuffixList,${mergedBamSuffix},string,"A list of all known suffixes for merged bam files. I.e. merged.dupmark.bam, merged.mdup.bam..." defaultMergedBamSuffix,${mergedBamSuffix},string,The default suffix for merged bam files when they are created by Roddy. libloc_PSCBS,,string,path to PSCBS library in R libloc_flexclust,,string,path to felxclust library in R