In business for 20 years and cited in 1,200+ publications, we are proud to support over 10,000 users in more than 350 institutions worldwide.
Our entire clinical pipeline consists of software products that are deeply integrated with each other. In addition, we provide automation capabilities that are crucial in high-throughput testing environments.
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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
"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
“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
Presented by: Nathan Fortier, Ph.D. | Senior Product Engineer, Golden Helix
Computational evidence plays a vital role in the interpretation of variants using the ACMG guidelines. This includes functional prediction scores like SIFT and PolyPhen2, as well as conservation metrics such as GERP++ and PhyloP. In this webcast, we will review the conservation scores and functional prediction algorithms available in VSClinical. This will include a discussion of our own implementation of these algorithms, along with a comparison to more recent variant prediction methods. Finally, we will demonstrate how these algorithms can be utilized during the interpretation of variants within VSClinical.