Join  Dr. Midhat Farooqi, Dr. Ayse Keskus, and Dr. Lisa Lansdon for an overview of structural variant calling from HiFi data using Severus, a recently-developed bioinformatics tool which can detect simple and complex structural variants (SV) from whole-genome long-read sequence data. Topics will include an overview of the utility of long-read sequencing in cancer testing, a description of how Severus takes advantage of improved long-read mappability and phasing to model chromosomal rearrangements, and discussion of a cytogenetically cryptic KMT2A::MLLT10 rearrangement detected by this methodology.

Level of Instruction: Intermediate to Advanced

Learning Objectives: At the end of this session, the participant will be able to:

1. Describe the benefits of long-read sequencing versus short-read sequencing.
2. Summarize how the Severus algorithm calls structural variants from long-read sequence data.
3. Identify cases that may benefit from additional testing, including structural variant detection using long-read data