Course Details

  • Date: February 26th, 2013 - February 26th, 2013
  • Time: 2:15 pm - 5:00 pm
  • Location: Building 37, Room 4041/4107
  • Presenter(s):

Comparison Study of NGS SNP Detection Tools

  • Brief background and introduction for the current status of SNP detection field and each of the selected tools to be compared
  • Description of our benchmark exome-seq data with pedigree info and SNP array data from matched-samples and why they are useful for comparison of these tools for SNP call quality
  • Comparison and validation results of these tools using the benchmark data
  • Conclusion and take-home message
  • Q & A session


Detailed Illustration of the Practical Usage of Each SNP Detection Tool

  • Brief introduction of practical aspects of the tools (e.g., download, installation, interface, running environment, basic system requirement etc)
  • Practical command lines for command-driven tool(s), parameter options, wrapper script examples for the command-driven tools, interface for commercial tools
  • Brief discussion of result files and some diagnosis plots, etc.
  • Q & A session