Whole Exome Sequencing (WES) generates a huge amount of genetic information that requires high-quality data analysis and careful interpretation to obtain a genetic diagnosis for your patient. The testing process is complex and often the steps that take place between receiving a sample for testing and issuing a report can seem obscure. How are data analyzed? How are variants of interest identified and then classified?
During this educational webinar, Senior Geneticist Dr Kirsty Wells and Laboratory Director Dr Jennifer Schleit will provide an overview of the analysis and interpretation process with a focus on exome analysis. From data analysis to variant interpretation, we will describe how the patient’s genetic information is decoded to provide actionable insights to guide medical management.
- Review how WES data are analyzed in a clinical laboratory
- Provide a brief introduction to variant classification
- Provide a checklist of points to consider when ordering exome testing
- Demonstrate the value of a genotype-first approach
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.
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
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