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Workflows for whole-genome/exome sequencing data analysis

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READS QUALITY, ALIGNMENT, VARIANT CALLING, VARIANT FILTERING, AND ANNOTATION WORKFLOW

This repository contains workflows/pipelines for the following tasks:

  • Reads quality assessment: getFastqBamQualityReports.nf
  • Reads alignment to reference: alignReadsToReference.nf
  • Variant calling: callVariants.nf
  • Variant fltering: filterVariantCalls.nf
  • Variant annotation: annotateVariants.nf

It takes as input FASTQ or BAM files which are specified in the nextflow.config file.

Basic Usage

  • Get reads quality reports
$ nextflow run getFastqBamQualityReports.nf -w /path/to/work-directory/ -profile local
  • Align reads to reference
$ nextflow run alignReadsToReference.nf -w /path/to/work-directory/ -profile chpc
  • Call variants from aligned BAM files
$ nextflow run callVariants.nf -w /path/to/work-directory/ -profile ucthpc

IMPORTANT NOTE

You must build the indices of all references in the same directory as the references for this workflow to run successfully

  • Build BWA index
$ bwa index ref
  • Build GATK index
$ gatk CreateSequenceDictionary -R ref
  • Build .fai index with SAMTOOLS FAIDX
$ samtools faidx ref