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GA/VG Pipeline Outline

May 8th, 2023
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  1. ## Inputs:
  2. ##   Reference: T2T-CHM13 v2.0
  3. ##   Reads: HG002 PacBio 70x Coverage, via GIAB
  4. ##   Base Variants (for vg construct): Simons Genome Diversity Project callset on T2T-CHM13 v2.0
  5. ##
  6. ## Software:
  7. ##   vg v1.47.0
  8. ##   GraphAligner v1.0.17b (bioconda)
  9. ##   cuteSV v2.0.2
  10. ##   Sniffles2 v2.0.6
  11.  
  12. ## Pipeline Outline
  13.  
  14. vg construct -r $ref $variants -t 32 > $base_dir/t2t.vg
  15.  
  16. # GraphAligner and vg surject were run on subsets of reads and the BAMs were merged
  17.  
  18. GraphAligner -g $base_dir/t2t.vg -x vg -t 32 -f $reads -a $base_dir/$gam_file.gam
  19. vg surject -x $base_dir/t2t.vg -t 32 -b $base_dir/$gam_file.gam > $work_dir/$bam_file.bam
  20.  
  21. cuteSV -t 32 --genotype --max_cluster_bias_INS 100 --diff_ratio_merging_INS 0.3 --max_cluster_bias_DEL 100 --diff_ratio_merging_DEL 0.3 --min_size 50 --min_support 5 $work_dir/$bam_file.bam $ref $dest_dir/cuteSV/$vcf_out.vcf $tmpdir
  22.  
  23. sniffles --input $work_dir/$bam_file.bam --vcf $dest_dir/sniffles/$vcf_out.vcf --reference $ref --minsupport 5 --minsvlen 50
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