Copy number variants (CNVs) represent a small, but relevant part of molecular diagnostics. In this webinar Laboratory Director Dr Jennifer Schleit will review the capabilities and limitations of different CNV detection technologies, with an emphasis on more recently developed next-generation sequencing–based CNV detection methods. We will use case examples to highlight the diagnostic power of combining both CNV and sequence analyses in a single testing method.
- Review different CNV detection methods and their limitations
- Describe, in detail, the recently developed NGS-based CNV detection methods and demonstrate why our high resolution CNV detection is a powerful diagnostic tool
- Present case examples demonstrating the effectiveness of performing sequence and CNV analyses at the same time, increasing the diagnostic yield in inherited diseases
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.