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Using VSClinical for American College of Medical Genetics (ACMG) Guidelines and Copy Numerical Variations (CNVs)

Evaluating variants according to the American College of Medical Genetics and Genomics (ACMG) guidelines can be an extensive process that requires an in-depth understanding of all available criteria for any cell variant. VSClinical is software that uses a single testing paradigm to automate the complex ACMG guidelines process. Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. This class will show examples of the new CNV analysis guidelines, assess the impact of CNV on Gene and Gene Dosage, and demonstrate how the Golden Helix CNV caller can streamline the analysis process. Golden Helix’s VarSeq-CNV (VS-CNV) is a calling algorithm that uses one testing paradigm to provide a true simplification of a clinical workflow. Attendees will learn how to simplify and streamline this process without losing user-control of final results or overlooking any crucial criteria components necessary for final classification.

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