/exome-seq

Primary LanguageNextflowGNU General Public License v3.0GPL-3.0

Exome-seq Pipeline

This pipeline offers a end-to-end workflow for exome analysis using the GATK4 toolchain

  • trimming with Fastp
  • read alignment with BWA
  • duplicate marking using Picard MarkDuplicates
  • quality score recalibration
  • gvcf calling
  • joint variant calling -- variant hard-filtering [default] -- variant recalibration (SNPs and Indels) and filtering [optional, off by default and only recommended for >= 30 exomes]

The result will be a multi-sample VCF file as well as a list of VCF files for each sample.

Documentation

  1. What happens in this pipeline?
  2. Installation and configuration
  3. Running the pipeline
  4. Output
  5. Troubleshooting