Date: January 30, 2025
Time: 5:00 PM CET
Whole exome sequencing (WES) is a powerful diagnostic tool and can be especially useful for patients on a diagnostic odyssey. In this presentation, Dr Kirsty Wells will demonstrate cases solved by an optimized whole exome sequencing assay that includes mitochondrial DNA analysis, custom targeted noncoding variants, high depth and coverage, advanced CNV detection, and AI-driven variant prioritization. Dr Wells will demonstrate that high-quality whole exome sequencing, when optimized to achieve the best possible diagnostic yield, remains relevant in a field moving towards whole genome sequencing.
Webinar objectives
- Share experience of utilizing an optimized WES assay which includes almost 2000 clinically relevant noncoding variants, small CNV detection, and enhanced coverage of challenging regions
- Discuss the power of a genotype-first approach and the importance of skilled interpretation
- Demonstrate the impact of WES testing on patient care through interesting patient cases
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Disclaimer: Blueprint Genetics does not offer screening tests in the US at this time
Speakers
Kirsty Wells
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.
More details here