Directly call a CNV in target regions and avoid the cost and turn-around time of additional CMA or MLPA testing

Features

Clinical genetic testing often requires looking for and interpreting Copy Number Variants (CNV) as well as small point mutations. While NGS based gene panels and exome tests have become the best practice assay for many types of genetic tests, CNVs must be acquired using a different paradigm.

Golden Helix has pioneered an industry leading CNV calling algorithm that operates on existing clinical NGS gene panel, exome and whole genome NGS data. Along with the calling of CNV events, the entire workflow is managed inside VarSeq’s clinical interpretation workflow. This integration enables CNV events to be considered alongside the annotated and filtered NGS small variants and incorporated into clinical reporting using VSReports.

Detect CNVs

VS-CNV is able to detect CNVs in your NGS data sets. It ascertains multiple metrics from samples along with matched controls to make CNV calls with high and consistent accuracy and sensitivity to meet the thresholds for clinical validation and adoption.

Operates on all NGS Data

Our CNV calling algorithm operates on existing clinical NGS gene panel, exome, and whole genome NGS data. The entire workflow is managed inside VarSeq’s clinical interpretation workflow. This integration enables CNV events to be considered alongside the annotated and filtered NGS small variants and incorporated into clinical reporting using VSReports.

Integrated Clinical Workflow

The entire workflow is managed inside VarSeq’s clinical interpretation workflow. This integration enables CNV events to be considered alongside the annotated and filtered NGS small variants and incorporated into clinical reporting using VSReports.

Germline & Cancer Tests

With VS-CNV the following can be achieved for germline and cancer tests: Call CNV events that range from 200bp single exons to multi-megabase and chromosomal aneuploidy, replace multiple assays such as MLPA, qPCR and CMAs with a single NGS test, use the NGS data already generated to call small SNPs and InDels variants to call CNVs, and integrate Loss of Heterozygosity (LOH) with CNV calling to distinguish Copy-Neutral LOHs from LOH events that support Heterozygous Deletion CNV calls.

Try VS-CNV for Free

Did you know we offer complimentary trials of our software? No restricted features, no sample data - you get to try all the features of VSClinical with your data and see how it works!

If you are interested in a trial, please fill out the form below, and we will send you the details!

High Precision Exome CNV Detection with VS-CNV

Leading the charge in clinical variant analysis. See VarSeq in action with our free webcast. Check out the rest of our free on-demand webcasts that cover our leading platform.

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Use Cases

Detect Structural Variations

Structural variations such as copy-number variation and deletions, inversions, insertions, and duplications account for much more genetic variation than single nucleotide diversity.

Major genomic mutations in germline cells will likely result in inviable or cause human diseases such as Down syndrome, Turner Syndrome and many other diseases result from aberrations of entire chromosomes. Cancer cells frequently have aneuploidy of chromosomes, as well as other major structural variations.

Traditionally, labs conduct their CNV analysis outside of NGS workflows by deploying methods such as quantitative PCR, multiplex ligation-dependent probe amplification (MLPA) or chromosomal microarrays. Conducting this analysis leveraging NGS data has the potential to simplify clinical workflows. It goes without saying that this approach can potentially reduce costs in running a CNV analysis substantially.

Case Studies

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Recommended Learning Materials

We have a variety of materials for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VS-CNV!

eBooks

Read our eBook on how NGS has made its way into the clinic.

NGS-Based Clinical Testing

Read Here

Webcasts

Check out some of our previously recording webcasts featuring VSClinical in action!

CNV Analysis in VarSeq - A User's Perspective

Watch Now

Other Resources

Explore a clinical workflow in VarSeq or follow along with a VS-CNV tutorial!

VarSeq Viewer:
Download Here

VS-CNV Whole Exome CNV Caller Tutorial:
View Here

VS-CNV Caller Tutorial:
View Here

Technical Specifications

VarSeq is on-premises software, ensuring full control over installation and data management. It is compatible with various deployment environments including workstations, server setups with remote desktop access, and private cloud servers.

The software is optimized for operation within strict corporate firewalls. It seamlessly integrates with existing web proxy configurations, ensuring uninterrupted functionality in secured network infrastructures. VarSeq's internet connectivity requirements are minimal. It only needs to connect to a select group of Golden Helix servers. This connection is essential for license verification and accessing annotation data updates.

See System Requirements for more details of hardware and operating systems requirements based on planned workflows.