VarSeq Dx is designed with compliance and reliability for your clinical analysis.


VarSeq Dx is our flagship software, VarSeq, that is CE marked to meet the European In Vitro Diagnostic Regulation (IVDR 2017/746) requirements. VarSeq Dx satisfies the IVDR requirements within the European Economic Area (EEA).

CE Mark

The VarSeq Suite is CE marked following the European Regulation IVDR 2017/746 on In Vitro Diagnostic Medical Devices.

ISO Certification

Golden Helix received ISO 13485:2016 for its Medical Devices and Quality Management Systems based on the VarSeq Suite.


Our customers will work with our Field Application Scientist to verify the installation and ensure proper usage of the software. This can be used for ISO QMS software validation documentation.

User Certification

Tiered certification option to ensure training and proper usage of the various VarSeq Suite modules. User Proficiency Certificate upon successful completion of evaluation.

Use Cases

Cancer Diagnostics

Make breakthroughs in cancer diagnostics with supported gene panel testing and whole exome and genome analysis.

  • Support for Cancer Gene Panels:VarSeq includes the specialized features needed for cancer workflows. Allelic ratios are automatically calculated to detect somatic mutations at low tumor fractions. Additionally, variants can be annotated precisely against several different cancer databases such as CIViC and ICGC somatic mutations. Finally, variant blacklists can be imported to filter variants that your lab has found to be inaccurate or not actionable.
  • Oncogenicity Scoring: Apply the Cancer Classifier within VarSeq to easily prioritize variants for analysis within patient evaluations.
  • Tumor/Normal Workflows: VarSeq provides complete support for Tumor Normal workflows. Samples can be imported as matched pairs, allowing germ line variants to be filtered out in a single step. Multiple paired samples can be imported in a single project enabling fast and accurate analysis in settings where reproducibility is critical.
  • Comprehensive Cancer Workflows: : VarSeq provides workflow support for comprehensive genomic profiling kits and large cancer gene panels. Variants can be prioritized based on the presence of tumor suppressor or oncogenes genes and variant functional impact. Workflows are designed to prioritize variants for analysis within VSClinical AMP.

Hereditary Testing & Diagnosis

Helps clinical testing laboratories complete the time-critical and patient-centric workflows for gene testing and rare disease diagnosis

  • Comprehensive Workflows: The VarSeq clinical stack supports all of the steps necessary to provide clinical genetic tests from the raw VCF variants to the signed out clinical report. VarSeq's flexibility allows you to customize workflows to the individual gene panel or exome test.
  • Supported Genetics Tests Include: Diagnostic testing used to identify the presence or absence of causal genetic variations for specific disease , predictive and pre-symptomatic genetics tests designed to identify hereditary gene changes that can increase the lifetime risk of developing diseases, and Newborn Screening used to test babies soon after birth to identify highly penetrant variants for certain diseases known to cause problems with health and development.
  • Rare Disease Diagnosis: VarSeq includes first-class support for the more complex workflows associated with discovering the causal variants of rare disease. This includes using related samples in trios and quad analysis, algorithms that detect inheritance patterns of variants, ranking of rare patheogenic variants by their relevance to the phenotype terms provided by differential diagnositics and the integration of the public and premium annotations sources.

Trio Analysis

VarSeq provides the ability to check for all modes of inheritance in parallel leveraging proven and tested parameter settings for complete data analysis, filtering and interpretation workflow.

In combination with our PhoRank algorithm, we can effectively zero in on the most relevant variants and sort them by relevance in conjunction with the phenotype.

Carrier Screening

Analyze reproductive information for individuals or partners based on the presence of pathogenic variants in carrier genes and genes with shared carrier disease risk.

  • Partner Paired Workflow: VarSeq enables defining partner relationships during import to facilitate variant evaluation between individuals. Display partner variants side-by-side, or at a gene level, and visualize each partner's variants in Genomebrowse.
  • Shared Carrier Gene Detection: Identify mutations between potential reproductive partners at a gene level for common autosomal and X-linked recessive disorders.

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 VarSeq!


Check out our free eBooks on a variety of different topics:

Other Resources

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

VarSeq Viewer:
Download Here

Introduction to VarSeq:
Download Here

Contact us about VarSeq Dx

Did you know we offer complimentary trials of our software? No restricted features, no sample data - you get to try all the features of VarSeq 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!

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.