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A Snakemake Pipeline for the Study of Genomic Instability

A Snakemake pipeline for the bioinformatics analysis of genomic instability from NGS data with normal/tumor pair.



This Snakemake pipeline take aligned BAM files from germline/diagnosis samples as input and perform:

  1. GATK Best Practices Preprocessing

  2. Variant Calling using:

    • Mutect2 (GATK4)

    • Strelka2 + Manta

  3. Ploidy/Cellularity analysis using:

    • Sequenza
  4. (TODO) Add Williams et al, 2018 and/or Mobster package (Caravagna et al, 2019 preprint)

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