Validating Short Tandem Repeats by Genome Sequencing in the Illumina Clinical Services Lab

Webinar Abstract

Patients and their families can spend many years hoping to reach a diagnosis for their rare disease. Whole genome sequencing (WGS) enables the most extensive analysis of the genome, including analysis of coding and noncoding regions, comprehensive variant class detection, and findings that can be coupled with epigenetic or transcriptomic evaluations.

Listen as Dr. Tanner Hagelstrom discusses the clinical validation of short tandem repeats (STRs), introducing this unique variant class to a whole genome sequencing workflow.

In this webinar, Dr. Hagelstrom will discuss:

• How to identify STRs using an algorithm called Expansion Hunter
• Steps taken to validate Expansion Hunter into a clinical workflow
• A proposed clinical workflow to analyzing STRs as part of WGS
• Limitations and considerations of analyzing STRs as a variant class in WGS

Webinar Speakers