Accurate and timely genetic diagnosis remains a major challenge across clinical medicine, particularly for patients with rare, undiagnosed, or complex conditions. While short-read whole genome sequencing (WGS) has improved diagnostic rates, it continues to miss key variant types—including structural variants, repeat expansions, and methylation abnormalities—that are often central to disease mechanisms.
In this GEN webinar, experts from Sampled and Rady Children’s Hospital will discuss the validation and clinical integration of PacBio HiFi long-read whole genome sequencing (WGS) as a next-generation diagnostic tool. By benchmarking against short-read sequencing, the team demonstrated how long-read WGS increases diagnostic yield, improves accuracy across difficult genomic regions, and provides deeper insights into complex genetic disorders. The session will also outline a framework for implementing long-read WGS within CLIA/CAP environments, supporting both clinical testing and translational research initiatives. Key takeaways from the webinar are:
- Why short-read WGS fails to capture critical variant classes relevant to rare and complex diseases
- How long-read WGS enhances detection of structural variants, repeat expansions, and methylation profiles
- Analytical validation results: accuracy, reproducibility, and turnaround time in a clinical setting
- Real-world examples of improved diagnostic yield and clinical decision support
- Framework for CLIA/CAP-compliant implementation of long-read WGS in clinical genomics programs
A live Q&A session will follow the presentation, offering you a chance to pose questions to our expert panelists.
Produced with support from:
