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Somatic mutation calling on moderately deep WES data using GATK/MuTect

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PAJP

Introduction

Snakemake based toolchain for somatic variant calling on tumor/normal pairs of WES data. Implementing GATK best practices for .bam-file processing and then uses MuTect and Scalpel to call SNVs and Indels. Furthermore use contest to estimate cross-sample contamination and generate quality control reports for the bam-files using QualiMap.

The vcf files of called somatic variants are annotated using Annovar.

The config.py script makes some pretty harsh assumptions on how the fastq-files are ordered.

TODO

  • Subworkflows.
  • uploading of metadata to dropbox etc.

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Somatic mutation calling on moderately deep WES data using GATK/MuTect

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