Advancements in sequencing technology have made molecular diagnostics an increasingly powerful and accessible tool for patients with inherited disorders across various medical specialties. The ability to sequence more genes in a cost-effective manner has led many to adopt a “bigger is better” approach to selecting genetic tests. But is bigger necessarily better?
During this webinar, Laboratory Director Dr Jennifer Schleit will explain how sequencing quality and data interpretation impact the identification of diagnostic variants in molecular genetic testing. Additional capabilities in next-generation sequencing (NGS), including copy number variant (CNV) detection and mitochondrial DNA analysis, will also be addressed. Example cases will be presented to highlight the importance of considering test quality when selecting a genetic test.
- Explain how high and uniform sequencing coverage is critical for robust detection of variants across all genes.
- Demonstrate the significance of NGS-based copy number detection and mitochondrial DNA analysis in genetic testing strategies.
- Describe the genotype-first approach to exome analysis and why it is an effective method for variant identification.
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.