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- #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}
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