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This is an old revision of the document!

There is a nice introductory wiki to analysis of WES data, a bit outdated, but it is good to understand the basics.

The broad institute has developed GATK, a series of bioinformatic tools to analyze NGS data from the bottom.

As GATK indicates, WES workflow is divided in three main sections that are meant to be performed sequentially:

  • Data cleanup: from raw DNAseq sequence reads (FASTQ files) to analysis-ready reads (BAM files)
  • Variant discovery: from reads (BAM files) to variants (VCF files)
  • Evaluation: callset QC, refinement and preliminary analyses
genetica/intro.1424692380.txt.gz · Last modified: 2020/08/04 10:48 (external edit)