Today, I am happy to announce the introduction of VS-CNV for Gene Panels and Exomes. We have developed this capability in partnership with PreventionGenetics.

PreventionGenetics will use VarSeq CNV for analysis of gene panels, and in the future for exome sequencing. The software gives PreventionGenetics the opportunity to conduct a comprehensive CNV analysis on NGS data, in many cases eliminating the need for an expensive microarray test.

Jim Weber, CEO of PreventionGenetics, says, “We have adopted the CNV analysis platform of Golden Helix as part of our routine clinical testing pipeline for gene panels. We are highly impressed with both the sensitivity and specificity of the Golden Helix CNV detection software. Sensitivity of the software in many cases exceeds chromosomal microarrays and rivals custom arrays with the highest probe density. Going forward, we will collaborate with Golden Helix to optimize the software for the analysis of clinical exomes.”

It has been a true pleasure working with Jim Weber and the entire PreventionGenetics Team. We are looking forward to continuing this fruitful collaboration.

Besides its ability to conduct a very powerful CNV analysis, the VarSeq product suite streamlines the process of annotating and filtering variants obtained from next generation sequencing pipelines, allowing both research scientists and clinicians to find variants of interest in a very efficient and straightforward manner. Also, the VarSeq suite includes capabilities to support the generation of clinical reports, as well as genetic data warehousing.

You can read the full press release here. If you are interested in learning more about this capability, contact us at info@goldenhelix.com and be sure to check out our introductory pricing offer.