Exomes are increasingly becoming part of the diagnostic pathway for patients with inherited disorders. There are multiple aspects of exomes that can impact the ability to reach a diagnosis. This educational webinar will demonstrate how high-quality sequencing coverage can impact the identification of diagnostic variants. Cases will be presented which illustrate the diagnostic power of combining accurate whole exome sequencing with NGS-based copy number detection. Finally, different approaches to exome analysis will be compared and discussed with a focus on the advantages of a genotype-first approach.
- Explanation of quality and performance in whole exome sequencing
- Overview of NGS-based copy number detection and its significance in whole exome testing
- Description of the genotype-first approach to exome analysis and why it is an effective method for variant identification
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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.