Improvements in Clinical Interpretation of Copy Number Variants (CNVs)

Explore the challenges and advancements in clinical interpretation of Copy Number Variants (CNVs) in this informative 41-minute webinar presented by Ambry Genetics. Gain insights into the evolution of CNV detection technologies and their impact on clinical diagnostics over the past two decades. Learn about the complexities of interpreting CNVs, ranging from small-scale to large-scale genomic variations, and their significance in both normal and pathogenic contexts. Discover the current challenges in CNV classification, including discrepancies between laboratories, technologies, and specialties. Understand the need for a quantitative, evidence-based evaluation framework for CNVs and how unified guidelines can improve interpretation consistency and quality. Through concrete examples, explore how these improvements can reduce variant classification discrepancies. Benefit from the expertise of presenter Mari Rossi, MS, PhL, a Clinical Scientist at Ambry Genetics, who shares her experience in rare disease genetics and CNV classification. Moderated by Vruti Mehta, MS, CGC, LGC, Supervisor of Rare Disease Reporting at Ambry Genetics, this webinar offers valuable knowledge for professionals involved in genetic testing and interpretation.