December’s webcast will provide the Golden Helix community with a more in-depth look at CNV analysis in VarSeq. On December 7th, Dr. Nathan Fortier will discuss the challenges and metrics surrounding CNV detection and then demonstrate VarSeq’s new capability from VCF to clinical report.
Numerous studies have documented the role of Copy Number Variations (CNVs) in human health with associated phenotypes including cancer, obesity, cognitive disability and numerous other maladies. Yet currently, detection of CNVs on targeted gene panels requires an alternative assay such as Chromosomal Microarrays (CMAs). As a result, current CNV detection techniques are expensive, slow and are only capable of detecting large multi-exon events.
In this webcast, we will demonstrate a new VarSeq algorithm for calling CNVs from NGS coverage data. This will include a discussion of:
- Challenges involved in CNV detection
- Metrics used to call CNVs from NGS data
- Need for representative reference samples
- Requirements for using this tool on your existing data
- Process for calling of CNVs in VarSeq
- Validation and reporting of CNV events
We hope you can join us for our last webcast of 2016!