Uncovering copy number variants in comprehensive genomic profiling

Copy number variants (CNVs) are increasingly recognized as clinically significant biomarkers across a wide range of tumor types, with emerging evidence supporting their role in prognosis, therapeutic stratification, and disease characterization. Despite advances in CGP, accurate CNV detection and interpretation in solid tumors remains challenging, owing to tumor heterogeneity, assay complexity, and inconsistent analytical approaches.

In this webinar, participants will explore current challenges and considerations associated with CNV detection and interpretation in precision oncology research. Through real-world examples and discussion of CGP strategies, the webinar will examine approaches for improving scalability, consistency, and confidence in biomarker characterization.

Join us to gain insight into evolving approaches for CGP and the role of CNV analysis in advancing precision oncology research.

At the conclusion of this session, participants will be able to:

Evaluate the clinical and research relevance of CNVs in solid tumors, including challenges associated with detection and interpretation.
Describe the role of tumor content estimation and allele-specific copy number analysis in the characterization of complex genomic alterations.
Assess considerations and approaches for analyzing complex biomarkers within CGP workflows used in precision oncology research.

Presenter

Dr. Rami Mahfouz MD, MPH, IFCAP

Professor of Molecular Pathology, Head of Division of Clinical Pathology, Director of Molecular Diagnostics Laboratory, American University of Beirut, Lebanon

Dr. Lina Li, PhD, MBA

Director of Product for Solid Tumors, SOPHiA GENETICS

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