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.

Please fill out the form to save your seat for this webinar. Can't make it at this time? Don't worry. Register now, and we will send you the on-demand recording to catch up on what you missed.