Introduction to SNP discovery tools used for Next Generation Sequencing data
When: Feb. 26th, 2013 2:15 pm - 5:00 pm
About this Class
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