Building databases to support clinical and research applications of long-read sequencing
Wednesday 18 March 2026
08:00 [PDT] 11:00 [EDT] 15:00 [GMT]
Danny Miller and Jonas Gustafson of the Miller Lab at the University of Washington (WA, USA) discuss their work on the development of resources to support the analysis of long-read sequencing data and hasten its adoption in the clinical and research spaces.
Long-read sequencing is unique in that, as a single test, it can replace nearly all other types of clinical and research genetic testing methods used today to evaluate individuals with rare genetic conditions. While historical concerns about cost, accuracy, workflows and sample input requirements have been resolved, there are still challenges regarding data analysis as well as variant filtering and prioritization.
What will you learn?
- How long-read sequencing overcomes limitations of prior clinical and research genetic testing approaches.
- The barriers to implementing long-read sequencing at scale in clinical and research environments.
- How variants identified in short-read sequencing data may be less effective for filtering long-read sequencing data.
Who will this interest?
- Bioinformaticians
- Molecular biologists
- Geneticists
- Genetic counsellors
- Clinical lab technicians
Speakers
Danny Miller
Assistant Professor
University of Washington
Danny Miller is an assistant professor at the University of Washington and Seattle Children’s Hospital. His lab is working to implement clinical long-read sequencing to increase the rate of genetic diagnoses, shorten the time it takes to make a genetic diagnosis and reduce barriers to accessing comprehensive genetic testing. Clinically, he cares for patients in both general genetics and skeletal dysplasia clinics.
Jonas Gustafson
Pre-Doctoral Student
University of Washington
As a pre-doctoral student in molecular and cellular biology at the University of Washington, Jonas (Gus) Gustafson has a broad interest in rare human genetic diseases. Since starting graduate school, he has become especially interested in using long-read sequencing to characterize pathogenic structural variants.
In association with
