February 5, 2021  |  Presentation

Virtual Global Summit: Long-range PCR meets long-read sequencing: Tandem technologies for tackling the toughest genes in carrier screening

In this PacBio Virtual Global Summit 2020 presentation, Gary Latham of Asuragen shares how high-prevalence carrier genes associated with disorders such as Fragile X Syndrome, SMA, and Hemophilia include GC-rich repeats, complex structural variants, and/or pseudogenes can derail conventional sequencing methods. Latham reviews these challenges and presents a solution that integrates novel PCR chemistry with SMRT Sequencing to create a unified workflow for carrier screening.

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