PureTarget in action: Scalable and accurate repeat expansion sequencing скачать в хорошем качестве

PureTarget in action: Scalable and accurate repeat expansion sequencing

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:    / @pacificbiosciences   Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...