Realizing the full diagnostic value of whole exome sequencing (WES) depends not only on technical rigor but on the sophistication of the interpretive process that follows. In this webinar, Dr. Kirsty Wells examines the core components of high-quality WES interpretation: intelligent variant prioritization using a genotype-first approach, continuously updated annotation of gene–disease associations, and the application of deep specialist expertise in variant interpretation. Drawing on real case examples, Dr. Wells will demonstrate that high-quality interpretation can mean the difference between an answer and a missed diagnosis.
Webinar objectives
Understand the key components of high-quality WES interpretation, including variant prioritization strategies and gene-disease association annotation
Evaluate the role of specialist expertise in accurate variant interpretation
Recognize how rigorous interpretation translates into real-world diagnostic outcomes, as illustrated through case examples
Speakers
Kirsty Wells
Dr. Kirsty Wells is a Clinical Interpretation Team Manager at Blueprint Genetics who specializes in whole exome sequence interpretation and reporting. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Dr. Wells completed both PhD and postdoctoral research fellowships and undertook in-depth training in genetic diagnostics in the UK’s National Health Service.
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