run_gatk_hsM.pbs 1.8 KB

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  1. #PBS -N test
  2. #PBS -j oe
  3. #PBS -l ncpus=4
  4. #PBS -l nodes=1
  5. #PBS -l mem=20G
  6. #cd ${PBS_O_WORKDIR}
  7. bed=$1
  8. home=/home/guochangquan
  9. gatk=/cgdata/guocq/soft/GATK/4.1.2.0/gatk
  10. verify=/cgdata/guocq/soft/verifyBamID_1.1.3/verifyBamID/bin/verifyBamID
  11. b37=$home/database/GATK/b37/human_g1k_v37_decoy.fasta
  12. b37_dict=$home/database/GATK/b37/human_g1k_v37_decoy.dict
  13. idtwes_b37=/cgdata/guocq/script/wes-cnv/xgen-exome-research-panel-probes-b37.bed
  14. mby2_b37=/cgdata/guocq/script/MBY2-b37/MBY2_20180802.b37.6.bed
  15. bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.vcf.gz
  16. idtwes_bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.IDTWES.vcf.gz
  17. mby2_bia_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.MBY2.ip80.vcf.gz
  18. thal_snp_b37=/cgdata/guocq/database/gnomAD/af-only-gnomad.b37.SNP_biallelic.Thal.ip80.vcf.gz
  19. thal_bed_b37=/cgdata/guocq/script/Thal_wf/Thal_bed_20180702.b37.bed
  20. test -d metrics || mkdir metrics
  21. #bed=/cgdata/guocq/script/AZF-b37/190702_AZF.merge.filter-3.b37
  22. hg19_dict=/ngs/Bioinf/Database/ref/hg19/seq/hg19.dict
  23. shome=/cgdata/guocq/script/AZF-b37
  24. #$gatk BaitDesigner \
  25. #-T Thal_bed_20180702.b37.interval_list \
  26. #-R $b37 --DESIGN_NAME TEST_thal_120 --BAIT_OFFSET 120
  27. #exit
  28. test -f $bed.interval_list || \
  29. $gatk BedToIntervalList \
  30. -I $bed.bed \
  31. -O $bed.interval_list \
  32. -SD $b37_dict
  33. exit
  34. $gatk CollectHsMetrics \
  35. -I $bam_dir/${sample}.bam \
  36. -BI $bed.interval_list \
  37. -TI $bed.interval_list \
  38. -O metrics/${sample}_hs_metrics.txt \
  39. -R $b37 \
  40. --PER_TARGET_COVERAGE metrics/${sample}_hs_target.txt \
  41. --COVERAGE_CAP 6000 -MQ 0
  42. cd metrics
  43. Rscript $shome/azf_cov_norm.r $shome/AZF_ref_exon_cov-3.xls ${sample}
  44. perl $shome/AZF_dup_norm.pl ${sample}_norm.cov.xls
  45. Rscript $shome/azf_seg.r ${sample}
  46. perl $shome/AZF_del_type.pl ${sample}