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lofreq-somatic

Summary

This pipeline calls somatic variants with LoFreq Somatic.

The following steps are performed:

  • Read mapping (see cfg/references.yaml for references used by default and also refer to option --references-cfg)
  • Duplicate marking with samblaster (if not instructed otherwise)
  • Realignment with lofreq viterbi
  • Base quality recalibration with Lacer (Swaine Chen <mailto:[email protected]>), unless sequencing type is "targeted"
  • Calling of variants (SNVs and indels) with LoFreq

Output

  • Recalibrated BAM file per sample: {sample}.bwamem.lofreq.lacer.bam
  • Called variants: {sample}.bwamem.lofreq.lacer.{type}.vcf.gz (annotated: {sample}.bwamem.lofreq.lacer.{type}.snpeff.vcf.gz)
  • Mapping statistics: {sample}.bwamem.lofreq.lacer.bamstats