set -e | set -e | ||||
nt=$(nproc) | nt=$(nproc) | ||||
HRD_ANALYSIS_PATH="/cromwell_root/tmp" | |||||
mkdir $HRD_ANALYSIS_PATH | |||||
seqz=$HRD_ANALYSIS_PATH'/'${sample}'.seqz.gz' | |||||
small=$HRD_ANALYSIS_PATH'/'${sample}'.small.seqz.gz' | |||||
seqz=${sample}'.seqz.gz' | |||||
small=${sample}'.small.seqz.gz' | |||||
# bam2seqz | # 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 | 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 | # merge and remove | ||||
cd $HRD_ANALYSIS_PATH | |||||
zcat ${sample}_*.seqz.gz | awk '{if (NR == 1 || (NR != 1 && $1 != "chromosome")) {print $0}}' | bgzip > $seqz | 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 | tabix -f -s 1 -b 2 -e 2 -S 1 $seqz | ||||
rm ${sample}_*.seqz.gz; rm ${sample}_*.seqz.gz.tbi | rm ${sample}_*.seqz.gz; rm ${sample}_*.seqz.gz.tbi | ||||
sequenza-utils seqz_binning --seqz $seqz -w 50 -o $small | sequenza-utils seqz_binning --seqz $seqz -w 50 -o $small | ||||
# analysis in r | # analysis in r | ||||
Rscript ~/sequenza.r $HRD_ANALYSIS_PATH ${sample} | |||||
Rscript /home/sequenza/sequenza.r '.' ${sample} | |||||
>>> | >>> | ||||
runtime { | runtime { |
nt=$(nproc) | nt=$(nproc) | ||||
# MSI | # MSI | ||||
mkdir -p /cromwell_root/tmp/${sample} | |||||
mkdir -p /cromwell_root/tmp/ | |||||
msisensor-pro scan -d ${ref_dir}/${fasta} -o reference.list | msisensor-pro scan -d ${ref_dir}/${fasta} -o reference.list | ||||
if [ ${normal_bam} ]; then | if [ ${normal_bam} ]; then | ||||
msisensor-pro msi -d reference.list -n ${normal_bam} -t ${tumor_bam} -o /cromwell_root/tmp/${sample} | msisensor-pro msi -d reference.list -n ${normal_bam} -t ${tumor_bam} -o /cromwell_root/tmp/${sample} | ||||
msisensor-pro pro -d ${baseline} -t ${tumor_bam} -o /cromwell_root/tmp/${sample} | msisensor-pro pro -d ${baseline} -t ${tumor_bam} -o /cromwell_root/tmp/${sample} | ||||
fi | fi | ||||
cp /cromwell_root/tmp/${sample} ${sample}.MSI.txt | cp /cromwell_root/tmp/${sample} ${sample}.MSI.txt | ||||
# TMB | |||||
>>> | >>> | ||||
runtime { | runtime { |
MANTA_ANALYSIS_PATH="/cromwell_root/tmp" | MANTA_ANALYSIS_PATH="/cromwell_root/tmp" | ||||
mkdir -p $MANTA_ANALYSIS_PATH | mkdir -p $MANTA_ANALYSIS_PATH | ||||
cp ${regions} my_baits.bed | |||||
bgzip -c my_baits.bed > my_baits.bed.gz | |||||
tabix -p bed my_baits.bed.gz | |||||
# input files | # input files | ||||
if [ ${normal_bam} ]; then | if [ ${normal_bam} ]; then | ||||
INPUT="--normalBam ${normal_bam} --tumorBam ${tumor_bam}" | INPUT="--normalBam ${normal_bam} --tumorBam ${tumor_bam}" | ||||
# configManta | # configManta | ||||
$MANTA_INSTALL_PATH/bin/configManta.py \ | $MANTA_INSTALL_PATH/bin/configManta.py \ | ||||
$INPUT \ | $INPUT \ | ||||
--callRegions ${regions} --exome \ | |||||
--callRegions my_baits.bed.gz --exome \ | |||||
--referenceFasta ${ref_dir}/${fasta} \ | --referenceFasta ${ref_dir}/${fasta} \ | ||||
--runDir $MANTA_ANALYSIS_PATH | --runDir $MANTA_ANALYSIS_PATH | ||||
# runWorkflow | # runWorkflow |