Whole Exome Sequencing Data Analysis

  • Registration Closed
  • Jul 13, 2018
  • 10:00 AM to 04:00 PM
  • NIH Library Training Room

Session Description

This class will provide an introduction to exome sequencing data analysis followed by tutorials showing the use of an exome analysis workflow. The session will also feature a hands-on exercise during which participants will independently run a basic exome analysis for variant detection using a “point and click” approach. The exercise will run on a Galaxy platform using Illumina paired-end exome sequencing data, during which participants will:

  • Run a quality control check on sequencing data
  • Align the sequencing reads to a reference genome
  • Generate alignment statistics and check mapping quality
  • Identify variants
  • Visualize the exome sequencing data and variants

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