Panelists:
Shareef A. Nahas, PhD
ABMGG, FACMGG, Chief Scientific Officer
Sampled
Panelist
Shareef A. Nahas, PhD
Shareef A. Nahas brings deep expertise in genomics and laboratory operations, with senior leadership experience at Rady Children’s Institute for Genomic Medicine, Genoptix (Novartis), and Ambry Genetics. He earned his PhD in Molecular Toxicology from UCLA and completed a Clinical Molecular Genetics Fellowship through the UCLA Intercampus Laboratory Genetics, Genomics, and Medical Training Program. Nahas has authored or co-authored more than 40 peer-reviewed scientific publications.
Katarzyna (Kasia) Ellsworth, PhD
FACMG, CGMB, Senior Director of Clinical Operations
Rady Children’s Institute for Genomic Medicine
Panelist
Katarzyna (Kasia) Ellsworth, PhD
Katarzyna (Kasia) Ellsworth is the senior director of Clinical Operations at Rady Children’s Institute for Genomic Medicine in San Diego, California where she leads the Clinical Genome Center that pioneered rapid whole genome sequencing for critically ill pediatric patients. Ellsworth completed fellowships in both clinical biochemical genetics and clinical molecular genetics at the Greenwood Genetic Center in Greenwood, South Carolina, and holds certifications in both specialties from the American Board of Medical Genetics and Genomics (ABMGG). She earned her Bachelor of Science in Biotechnology at the University of Gdansk, Poland, and her PhD in Molecular Pharmacology and Experimental Therapeutics at the Mayo Clinic College of Medicine, in Rochester, Minnesota. Ellsworth’s research interests focus on clinical and diagnostic utility of rapid genomic testing in pediatric setting, and expanding its access to more patients across the U.S.
- Time:
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:
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