Streamlining clinical genetic testing: the promise of long-read sequencing

Long-read genome sequencing is unique in that as a single technology it has the potential to replace nearly all other clinical genetic testing technologies. The development of long-read sequencing based clinical testing requires evaluating its sensitivity compared to existing methodologies, developing methods and tools to simplify sample preparation and analysis, and understanding its shortcomings compared to other testing strategies.

After viewing this lecture, participants should be able to:
1. Understand the difference between long-read and short-read sequencing.
2. Identify cases which may benefit from long-read sequencing.
3. Understand limitations with long-read sequencing and existing challenges to clinical implementation.

Danny Miller, MD, PhD
Assistant Professor, Genetic Medicine
Departments of Pediatrics and Laboratory Medicine & Pathology
Brotman Baty Institute for Precision Medicine
University of Washington

11/30/22