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.
February 5, 2021 | Presentation