Automated integrated analysis software for genomics data of the cancer patients.
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- task HRD {
-
- String sample
- File ref_dir
- String fasta
- File gc
- File tumor_bam
- File tumor_bam_index
- File? normal_bam
- File? normal_bam_index
- String docker
- String cluster_config
- String disk_size
-
- command <<<
- set -o pipefail
- set -e
- nt=$(nproc)
-
- HRD_ANALYSIS_PATH="/cromwell_root/tmp"
- mkdir $HRD_ANALYSIS_PATH
- seqz=$HRD_ANALYSIS_PATH'/'${sample}'.seqz.gz'
- small=$HRD_ANALYSIS_PATH'/'${sample}'.small.seqz.gz'
-
- # bam2seqz
- sequenza-utils bam2seqz -gc ${gc} --fasta ${ref_dir}/${fasta} -n ${normal_bam} -t ${tumor_bam} -o $seqz -C chr1 chr2 chr3 chr4 chr5 chr6 chr7 chr8 chr9 chr10 chr11 chr12 chr13 chr14 chr15 chr16 chr17 chr18 chr19 chr20 chr21 chr22 chrX chrY --parallel 24
-
- # merge and remove
- cd $HRD_ANALYSIS_PATH
- zcat ${sample}_*.seqz.gz | awk '{if (NR == 1 || (NR != 1 && $1 != "chromosome")) {print $0}}' | bgzip > $seqz
- tabix -f -s 1 -b 2 -e 2 -S 1 $seqz
- rm ${sample}_*.seqz.gz; rm ${sample}_*.seqz.gz.tbi
-
- # seqz_binning: WES: 50; WGS: 200
- sequenza-utils seqz_binning --seqz $seqz -w 50 -o $small
-
- # analysis in r
- Rscript ~/sequenza.r $HRD_ANALYSIS_PATH ${sample}
- >>>
-
- runtime {
- docker: docker
- cluster: cluster_config
- systemDisk: "cloud_ssd 40"
- dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
- }
-
- output {
- hrd="${sample}.HRD.txt"
- alternative_fit="${sample}_alternative_fit.pdf"
- alternative_solutions="${sample}_alternative_solutions.txt"
- chromosome_depths="${sample}_chromosome_depths.pdf"
- chromosome_view="${sample}_chromosome_view.pdf"
- CN_bars="${sample}_CN_bars.pdf"
- confints_CP="${sample}_confints_CP.txt"
- contours_CP="${sample}_contours_CP.pdf"
- CP_contours="${sample}_CP_contours.pdf"
- gc_plots="${sample}_gc_plots.pdf"
- genome_view="${sample}_genome_view.pdf"
- model_fit="${sample}_model_fit.pdf"
- mutations="${sample}_mutations.txt"
- scarHRD_input="${sample}_scarHRD_input.txt"
- segments="${sample}_segments.txt"
- sequenza_cp_table="${sample}_sequenza_cp_table.RData"
- sequenza_extract="${sample}_sequenza_extract.RData"
- sequenza_log="${sample}_sequenza_log.txt"
- small_seqz="${sample}.small.seqz.gz"
- small_seqz_index="${sample}.small.seqz.gz.tbi"
- }
- }
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