From FASTQ to Clinical Report

We provide a complete, end-to-end solution for clinical labs and hospitals to analyze Next-Generation Sequencing data.

PROVEN

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.


INTEGRATED

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.


VALUE

No per-sample charges! You will save money with our annual subscription model. Licenses include unlimited training and support to ensure success.



Popular Products



SNP & Variation Suite

SNP & Variation Suite is a powerful analytic tool that allows biologists and other researchers to easily perform complex analyses and visualizations on genomic and phenotypic data.

  • GWAS & SNP Analysis
  • Large-N DNA-Seq Analysis
  • Genomic Prediction
  • Copy Number Analysis
  • RNA-Seq Analysis

Learn More


VarSeq

VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes and whole genomes.

Learn More


VarSeq

Built on the same algorithms of Varseq, VSWarehouse is a scalable, multi-project warehouse for NGS variant call sets, clinical reports and catalogs of variant assessments.

  • Fully Integrated with VarSeq Workflows
  • Scalable Technology
  • Organize Samples into Projects
  • Centralized Clinical Report Hosting
  • Create Variant Assessment Catalogs

Learn More


Support for Various Industries


Customer Testimonials


Rutgers Cancer Institute of New Jersey

Dr. Jeffrey Rosenfeld, Bioinformatics Scientist


“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.”


Read Rosenfeld's Case Study


University of Iowa

Dr. Benjamin Darbro, Director of Shivanand R. Patil Cytogenetics and Molecular Laboratory

“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.”


Read Darbro's Case Study


Cornell University

Dr. Heather Huson, Professor of Dairy Cattle Genetics, Odyssey DNA Lab

"The huge benefit of SVS is it's user-friendly and you can basically visualize your results in the same program. You don't have to spend nearly as much time manipulating data and results to get it in the right input and output formats."

Read Huson's Case Study


University of Iowa

Dr. Hela Azaiez, Associate Research Scientist, Molecular Otolaryngology and Renal Research Laboratories

“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.”


Read Azaiez's Case Study

University of Arizona

Dr. Rick Kittles, Director, Center for Population Genetics

"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 say it's better to have one program that can do everything than to look for updates on multiple applications all the time."

Read Kittle's Case Study


Recent Webcast

Automating the ACMG Guidelines with VSClinical

Presented by: Gabe Rudy | VP of Product & Engineering, Golden Helix

Clinical Genetic testing requires a complex analysis using the totality of our knowledge about the clinical relevance of a variant and a gene. This includes bioinformatic evidence as well as clinical evidence. The ACMG Guidelines provided a framework in which to score variants based on this evidence, and while some of those scoring criteria require close consultation of the clinical context for a given patient, much of it can be automated.

In this webcast, we review how VSClinical automates the ACMG scoring guidelines while integrating the collective lab expertise from previously classified variants and preferences about genes. We will cover:

  • Using the ACMG Auto Classifier as part the filtering strategy for gene panels and trio workflows
  • How gene preferences such as the default transcript, inheritance model, and disorder are updated and saved from VSClinical and used in all future analysis
  • How the per-variant recommendation engine builds on the auto-classification with descriptive reasons for answering each criterion yes or no
  • Using the auto-interpretation to present the evidence for all scored criteria in a human-readable paragraph
  • Working with VSClinical’s self-learning knowledgebase that incorporates previously classified variants and genes inform the interpretation of new variants!

We hope you can join us for this comprehensive review of VSClinical and how it streamlines the process of classifying variants following the ACMG guidelines!


Don't Miss the Good Stuff!


Golden Helix Newsletter Sign-up

Join our mailing list to receive the latest Golden Helix product news, big discounts on great software, special announcements and more.