Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Associated with being causal mutations for disease phenotypes, it is
Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Associated with being causal mutations for disease phenotypes, it is important in clinical and research settings to identify CNV events in samples or datasets. 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. VarSeq incorporates the ability to accurately call and annotate CNVs and evaluate germline and somatic mutations according to the Association for Molecular Pathology (AMP) guidelines. Golden Helix CancerKB is an AMP workflow feature that streamlines the analysis time and report generation.
Attendees will learn the following: setting up the VS-CNV caller using BAM files from whole exome data; filtering down to high quality; understanding high confidence CNV events; annotating CNVs using publicly curated catalogs and databases; adding clinically relevant CNVs to the VSClinical AMP workflow; and utilizing Golden Helix CancerKB to obtain expert-curated interpretations. This class will demonstrate updated software features, provide insights into best practice workflows, and show participants how to implement the software into a pipeline solution.
(Monday) 9:00 am - 10:00 am EST
NIH Training LibraryNIH Training Library