Join us for this webinar to hear from the team at Victorian Clinical Genetics Services (VCGS) as they present a compelling case study showcasing how Whole Exome Sequencing (WES) enhanced the detection of genetic variants. Using a customized Twist Exome 2.0 panel, they successfully identified pathogenic PKD1 and PKD2 copy number variants linked to polycystic kidney disease. The panel also includes coverage of the non-coding RNU4-2 gene, which is frequently associated with neurodevelopmental disorders.

In this webinar, you'll explore the science behind the advantages of exome sequencing in enhancing genetic variant detection, and discover how Twist Bioscience’s target enrichment panel scan support your research in real-world applications.