Uploaded October 2025 | Updated September 2026, 2 hours ago
How does a leading clinical genetics company tackle the most challenging single-gene disorders that elude short-read sequencing? At PacBio PRISM 2025, Aiping Mao, Director of R&D at Berry Genomics, shared the company's journey to address this critical need. Discover how Berry Genomics, a pioneer in the large-scale clinical application of sequencing technologies in China, adopted long-read sequencing to help provide clearer answers for complex genetic diseases like thalassemia, SMA, and Fragile X.
Follow Berry Genomics' strategic adoption of PacBio technology, from early explorations on the Sequel system to scaling up with Sequel II, Revio, and the Vega systems. This talk highlights their remarkable achievement of performing over 400,000 tests with HiFi sequencing and developing a comprehensive one-station solution that takes patients from sample to report.
Explore the data behind this success, including a head-to-head comparison that demonstrates the Vega system's efficiency, high-quality data output, and suitability for targeted clinical assays. The presentation also touches on promising preliminary data for using the Vega system for clinical whole-genome sequencing, showcasing a path toward broader applications.
00:00 Introduction
0:24 Berry Genomics' mission in clinical genetics
02:47 The challenge of complex single-gene disorders
03:40 The journey with PacBio long-read sequencing
05:25 Scaling to 400,000+ clinical HiFi tests
06:37 Evaluating the Vega system for targeted assays
09:01 Exploring whole-genome sequencing on the Vega system
10:47 A one-station solution: from sample to report
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
How does a leading clinical genetics company tackle the most challenging single-gene disorders that elude short-read sequencing? At PacBio PRISM 2025, Aiping Mao, Director of R&D at Berry Genomics, shared the company's journey to address this critical need. Discover how Berry Genomics, a pioneer in the large-scale clinical application of sequencing technologies in China, adopted long-read sequencing to help provide clearer answers for complex genetic diseases like thalassemia, SMA, and Fragile X.
Follow Berry Genomics' strategic adoption of PacBio technology, from early explorations on the Sequel system to scaling up with Sequel II, Revio, and the Vega systems. This talk highlights their remarkable achievement of performing over 400,000 tests with HiFi sequencing and developing a comprehensive one-station solution that takes patients from sample to report.
Explore the data behind this success, including a head-to-head comparison that demonstrates the Vega system's efficiency, high-quality data output, and suitability for targeted clinical assays. The presentation also touches on promising preliminary data for using the Vega system for clinical whole-genome sequencing, showcasing a path toward broader applications.
00:00 Introduction
0:24 Berry Genomics' mission in clinical genetics
02:47 The challenge of complex single-gene disorders
03:40 The journey with PacBio long-read sequencing
05:25 Scaling to 400,000+ clinical HiFi tests
06:37 Evaluating the Vega system for targeted assays
09:01 Exploring whole-genome sequencing on the Vega system
10:47 A one-station solution: from sample to report
Subscribe for more insights from PacBio: youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
