#PBS -N test #PBS -j oe #PBS -l ncpus=4 #PBS -l nodes=1 #PBS -l mem=20G #cd ${PBS_O_WORKDIR} bed=$1 home=/home/guochangquan gatk=/cgdata/guocq/soft/GATK/4.1.2.0/gatk verify=/cgdata/guocq/soft/verifyBamID_1.1.3/verifyBamID/bin/verifyBamID b37=$home/database/GATK/b37/human_g1k_v37_decoy.fasta b37_dict=$home/database/GATK/b37/human_g1k_v37_decoy.dict idtwes_b37=/cgdata/guocq/script/wes-cnv/xgen-exome-research-panel-probes-b37.bed mby2_b37=/cgdata/guocq/script/MBY2-b37/MBY2_20180802.b37.6.bed bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.vcf.gz idtwes_bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.IDTWES.vcf.gz mby2_bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.MBY2.ip80.vcf.gz thal_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.Thal.ip80.vcf.gz thal_bed_b37=/cgdata/guocq/script/Thal_wf/Thal_bed_20180702.b37.bed test -d metrics || mkdir metrics #bed=/cgdata/guocq/script/AZF-b37/190702_AZF.merge.filter-3.b37 hg19_dict=/ngs/Bioinf/Database/ref/hg19/seq/hg19.dict shome=/cgdata/guocq/script/AZF-b37 #$gatk BaitDesigner \ #-T Thal_bed_20180702.b37.interval_list \ #-R $b37 --DESIGN_NAME TEST_thal_120 --BAIT_OFFSET 120 #exit test -f $bed.interval_list || \ $gatk BedToIntervalList \ -I $bed.bed \ -O $bed.interval_list \ -SD $b37_dict exit $gatk CollectHsMetrics \ -I $bam_dir/${sample}.bam \ -BI $bed.interval_list \ -TI $bed.interval_list \ -O metrics/${sample}_hs_metrics.txt \ -R $b37 \ --PER_TARGET_COVERAGE metrics/${sample}_hs_target.txt \ --COVERAGE_CAP 6000 -MQ 0 cd metrics Rscript $shome/azf_cov_norm.r $shome/AZF_ref_exon_cov-3.xls ${sample} perl $shome/AZF_dup_norm.pl ${sample}_norm.cov.xls Rscript $shome/azf_seg.r ${sample} perl $shome/AZF_del_type.pl ${sample}