Gatk - Fix Vcf Header

Adds missing sequence dictionary to VCF header. This job also generates VCF index (.idx).

Location

  • Filepath: <SnakeLines_dir>/rules/shared/variant/report/calling/gatk.snake
  • Rule name: gatk__fix_vcf_header

Input(s):

  • vcf: Raw VCF from variant caller vardict.
  • fasta: Reference sequence.

Output(s):

  • vcf: Fixed VCF.
  • vcf_index: Fixed VCF index.

Tabix - Index Vcf

Create tabix intex on BGZF (bgzipped) VCF file.

Location

  • Filepath: <SnakeLines_dir>/rules/shared/variant/report/calling/gatk.snake
  • Rule name: tabix__index_vcf

Input(s):

Picard - Bed To Interval List

Conversion of BED file to GATK specific interval_list.

Location

  • Filepath: <SnakeLines_dir>/rules/shared/variant/report/calling/gatk.snake
  • Rule name: picard__bed_to_interval_list

Input(s):

  • bed: BED file
  • seq_dict: sequence dictionary

Output(s):

  • intervals: interval list

Gatk - Collect Variant Calling Metrics

GATK tool for generating

Location

  • Filepath: <SnakeLines_dir>/rules/shared/variant/report/calling/gatk.snake
  • Rule name: gatk__collect_variant_calling_metrics

Input(s):

  • vcf: called variants
  • vcf_index: index of called variants
  • dbsnp: DBSNP in BGZF format.
  • dbsnp_index: DBSNP index of BGZF format.
  • intervals: Genomic regions of interest.

Output(s):

  • filename: Text file with summary of calling metrics.