Whole Exome Sequencing (WES) offers a transformative approach to genetic diagnosis, targeting the exonic regions that harbor a significant proportion of disease-causing variants. Join us in this insightful webinar to explore the clinical utility of a comprehensive exome, encompassing uniform sequencing coverage, detection of deep intronic and regulatory variants, validated CNV analysis, mosaic variant identification, and an emphasis on technically challenging genes.
Discover the clinical relevance of genes that pose sequencing challenges and their unique potential to impact patient outcomes. Through real-world case studies and success stories, witness how WES, with its focus on these genes, directly influences patient care, enabling precise diagnoses that can alter treatment decisions. In this webinar, Clinical Genomic Liaison Kim Gall, MSc, CGC will guide you through the intricacies of WES, equipping you with the knowledge and insights to harness its power in finding answers and improving patient care.
- Define the components and highlight the clinical utility of a comprehensive exome
- Understand the clinical relevance of technically challenging genes
- Demonstrate how WES can provide crucial answers and directly impact patient care
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Kim Gall, MSc, CGC, is Senior Manager of Genomic Services at Blueprint Genetics. She received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Master of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Ms. Gall worked in a variety of clinical and laboratory settings across Canada before accepting a position as clinical liaison at Blueprint Genetics in 2017.