MMG3203H: Next-Generation Sequencing - Data Analysis and Interpretation

This course aims to analyze next-generation sequencing data. In partnership with Illumina, we will analyze WGS data to demonstrate the full complexity of the human genome. Students will learn how to use whole-genome sequencing technology to identify disease-causing mutations in complex human disorders. After the course, students will be able to: 1) Process the sequencing data to obtain genetic variant calls; 2) Find out the ethnicity and family relationship of the subjects involved; 3) Use available bioinformatics tools to facilitate interpretation of function and effects of the variants; 4) Confirm the accuracy of the variant calls from the reads and alignments; 5) Identify potential disease-relevant and pathogenic mutation(s); 6) Understand and be aware of secondary genetic findings; 7) Learn the power and limitation of current whole-genome sequencing technology.

0.25
MMG3003Y or equivalent
St. George
In Class