About this webinar

Recorded On: Wednesday, October 12, 2016

Copy Number Variations (CNVs) play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. Yet until now, if you wanted to have CNVs on your targeted gene samples, you would need an alternative assay such as Chromosomal Microarrays (CMAs).

In this webcast, we will discuss and demonstrate a CNV calling algorithm coming to VarSeq that is:

• Designed specifically for targeted gene panels and exomes
• Builds on and goes beyond best practices of existing NGS calling methods
• Has the precision to detect events ranging from a single-target to whole chromosome
• Takes advantage of the variants in target regions and their allele frequencies
• Designed and being validated in partnership with a clinical lab on clinical samples
• Integrates seamlessly with the VarSeq interpretation workflow and visualization

While we consider the handling of the variety of target panels and exome capture scenarios a process of iterative improvement, we will demonstrate the high precision characteristics of our algorithm on our clinical validation data sets.