Disclaimer: Blueprint Genetics does not offer WES+mtDNA tests in the US at this time

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Whole exome sequencing (WES) by Blueprint includes high-quality whole exome sequence analysis of single-patient cases, coupled with whole exome deletion/duplication analysis and mitochondrial genome (mtDNA) sequence analysis. Kirsty Wells, PhD, a senior geneticist at Blueprint Genetics, will present the Blueprint experience of utilizing an optimized WES assay that now includes almost 2000 clinically relevant noncoding variants, small CNV detection, and enhanced coverage of challenging regions. Through case examples, Dr Wells will show that these variant types underlie a significant proportion of WES diagnoses. Therefore, optimization for detection of these variants may maximise WES diagnostic yield.

Dr Wells specializes in interpretation of ophthalmology panels and WES data. 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. Kirsty is a UK-certified Clinical Scientist.
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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

Unable to attend live? By registering, you will receive a link to a recording of the webinar to watch at your convenience.