Uploaded June 2025 | Updated September 2026, 2 hours ago
Go beyond the theoretical and see PacBio PureTarget in action. This video demonstrates how the PureTarget workflow delivers the scalability, accuracy, and efficiency required for large-scale repeat expansion analysis. Discover how its ability to consolidate testing for over a dozen genes into a single assay is enabling major diagnostic labs to streamline complex screening for conditions like ataxia. We present benchmarking data from well-characterized reference samples, showing high concordance and consistency across the Revio, Vega, and Sequel IIe systems.
Explore the power of HiFi sequencing to resolve challenging genetic questions. Learn how PureTarget provides full sequence resolution of interruptions missed by classical methods, distinguishes between complex pathogenic and benign motifs in notoriously difficult genes like *RFC1*, and delivers a comprehensive, three-in-one analysis for *FMR1* that includes repeat size, interruption patterns, and methylation status—all from a single test.
00:00 Introduction to PureTarget performance
00:27 Scalability for ataxia screening
01:44 Accuracy and consistency across PacBio systems
03:51 Resolving complex repeat structures like RFC1
04:52 The efficiency of a three-in-one FMR1 assay
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
Go beyond the theoretical and see PacBio PureTarget in action. This video demonstrates how the PureTarget workflow delivers the scalability, accuracy, and efficiency required for large-scale repeat expansion analysis. Discover how its ability to consolidate testing for over a dozen genes into a single assay is enabling major diagnostic labs to streamline complex screening for conditions like ataxia. We present benchmarking data from well-characterized reference samples, showing high concordance and consistency across the Revio, Vega, and Sequel IIe systems.
Explore the power of HiFi sequencing to resolve challenging genetic questions. Learn how PureTarget provides full sequence resolution of interruptions missed by classical methods, distinguishes between complex pathogenic and benign motifs in notoriously difficult genes like *RFC1*, and delivers a comprehensive, three-in-one analysis for *FMR1* that includes repeat size, interruption patterns, and methylation status—all from a single test.
00:00 Introduction to PureTarget performance
00:27 Scalability for ataxia screening
01:44 Accuracy and consistency across PacBio systems
03:51 Resolving complex repeat structures like RFC1
04:52 The efficiency of a three-in-one FMR1 assay
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
