Session 3: DNA Sequencing Strategies and Quality Control

Topics Covered

  • Introduction to NGS sequencing
  • NGS Platforms Summary
  • Sequencing Strategies and Study Design
  • Quality Control (QC)
  • Data QC after read mapping

Practical

  • Running NGS QC
  • FASTQ-based QC results
  • Reviewing alignment-based QC results
  • Effect of FFPE on NGS Quality
  • Sequencing Strategy-specific QC Metrics

The aim of this session is to provide an in-depth summary of the DNA sequencing techniques most useful for cancer genomics, particularly next-generation sequencing (NGS) and Pacbio long read sequencing. First we will cover the very basics of NGS sequencing including a general sequencing workflow and considerations when choosing samples for sequencing. We will also provide an overview of quality control metrics to ensure your DNA samples are of suitable quality and quantity for sequencing.

Next, we will look more closely at the various sequencing platforms available today, specifically their scientific principles and capabilities. We will follow this section with a more in-depth look at targeted sequencing panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS) to highlight practical details and compare the strengths and weaknesses of each approach. The aim of this section is to give you a very clear idea of what sequencing method will best fit your needs for your next genomics study.

Finally we will cover quality control metrics for your sequencing data so you can be sure your NGS data is suitable for analysis. In the practical section you will gain hands-on experience with generating and analyzing NGS quality control data.