Join experts from Myriad Genetics and PacBio as they present a collaborative project, with the computational workflow hosted on DNAnexus, aimed at enhancing prenatal carrier screening for challenging genetic conditions.

This webinar will provide an in-depth look at how the PacBio PureTarget long-read sequencing assay is being deployed to resolve difficult genetic structural variations and improve the accuracy of Myriad’s Foresight® Carrier Screen.

What you will learn:

• The Challenge: Understand why short-read sequencing struggles with “special case” genes and structural variations like repeat expansions, inversions, and pseudogene-rich regions.
• The Solution: Discover the PureTarget workflow – a PCR-free, Cas9-mediated targeted technology that enables long-read SMRT sequencing of targets up to 20-kb.
• The Workflow: See how the Myriad computational team ports the workflow to DNAnexus for alignment and subsequent computational analysis, including the Repeat insertion workflow and the Complex locus workflow (called HardGenes).
• The Results: Review data showing how this long-read sequencing workflow successfully characterizes difficult variants such as repeat expansions in FXN and complex deletions/haplotypes in CYP21 and GBA.