Workflow focused solutions which integrate seamlessly with industry standards while automating and covering all your analysis needs.
In business for 17 years and cited in 1,000+ publications, we are proud to support over 10,000 users in more than 350 institutions worldwide.
Save money with an annual subscription! No hidden fees. No per-sample charges. Licenses include unlimited training and support to ensure success.
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“Being an informatics person, my job is to set the system up. Now that it’s up and running the molecular pathologist can run the samples. They do not need an informatics person to run every sample.”
Dr. Jeffrey Rosenfeld, Bioinformatics Scientist
“VarSeq had everything we were looking for with regards to annotation, filtering sources and an actual visual browser within the software itself. But what really set it apart in retrospect is how intuitive it is.”
Dr. Benjamin Darbro, Director of Shivanand R. Patil Cytogenetics and Molecular Laboratory
“The VarSeq software provides beautiful filtering and annotation for our samples. However, what really impressed us was the ability of VSWarehouse to help us to generate a population catalogue specific to the Ashkenazi Jewish community.”
Chaim Jalas, Director of Genetic Resources & Services
“It [SVS] opened so many doors for my research. It allowed me to explore new ideas. It allowed me to do stuff I never thought was even possible to do in that amount of time, so I could test so many hypotheses. All that I had to do is click a button.”
Dr. Hela Azaiez, Associate Research Scientist, Molecular Otolaryngology and Renal Research Laboratories
"SVS goes beyond simple genotype associations with Identity By Descent (IBD) calculations, principal component analysis, and the ability to visualize results, all in one application. So when people say 'It costs money,' I respond that it's better to have one program that can do everything than to have to look for updates on multiple applications all the time."
Dr. Rick Kittles, Director, Center for Population Genetics
"That's one of the huge benefits of SVS - it's user-friendly and you can basically visualize your results in the same program. So you don't have to spend nearly as much time manipulating data and results to get it in the right input and output formats."
Dr. Heather Huson, Professor of Dairy Cattle Genetics, Odyssey DNA Lab
Upcoming Webcast Event
Presented by: Nathan Fortier, PhD, Senior Product Developer & Field Application Scientist, Golden Helix
December 7, 2016 at 12:00 EST
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
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