Two modules of the Future Directions course are aimed at the generation and analysis of next generation sequencing data.

In partnership with Illumina, we will perform WGS on a trio 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. We will use subjects that are currently without known disease-causing mutations identified.

Learning Outcomes

After the course, the students will be able to:

  1. Prepare libraries for next generation sequencing

  2. Perform quality control on DNA samples and libraries

  3. Determine the quality of the whole genome sequencing experiments

  4. Process the sequencing data to obtain genetic variant calls

  5. Find out the ethnicity and family relationship of the subjects involved

  6. Use available bioinformatics tools to facilitate interpretation of function and effects of the variants

  7. Confirm the accuracy of the variant calls from the reads and alignments

  8. Identify potential disease-relevant and pathogenic mutation(s)

  9. Understand and be aware of secondary genetic findings

  10. Learn the power and limitation of current whole genome sequencing technology


Drs. Martina Steiner and Ryan Yuen