Simple, fast and repeatable variant analysis software for gene panels, exomes, and whole genomes


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. Understanding genomic data has never been easier thanks to our software.

Intuitive & Repeatable Workflows

VarSeq software provides a powerful filtering and annotation engine to sift through large variant data sets. Using a chain of filters, you can quickly narrow your list of variants down to those that are most likely to be of interest. After determining the parameters that work well for your analysis, you can save the state of your filters so that you can easily apply the same analysis to another dataset. The same automated workflow can be used for each batch of samples, making VarSeq an ideal solution for high-throughput environments. Real-time filtering gives you the power to quickly prototype and tune analysis workflows to the specific gene panels that your lab uses. Once the appropriate set of filters have been found, the workflow can be saved and applied to future sequencing outputs without having to re-enter any parameters.

Industry leading annotation sources

After data import, annotations are automatically applied based upon your pre-configured settings. Additional annotations can then be added at any time during the analysis process. The Golden Helix team curates a wide selection of public databases and updates these datasets on a quarterly basis. The specific annotations used in your analysis are stored locally with your data and are never changed without your explicit request. This ensures that your analysis is performed on a stable dataset and your results are reproducible and available in the future.

Coverage Statistics

VarSeq provides coverage metrics in two forms. First, each variant displays data about the region in which it resides. This binding allows variants from suspect regions to be flagged or filtered out, which can help to prevent false positives. Second, each region in the BED file can be examined. This mode of analysis ensures that all the targeted regions were sequenced, which is crucial to preventing false negatives.

Clinical grade variant annotations

Included in VarSeq is functionality similar to SnpEff or Variant Effect Predictor. Each variant is mapped to all overlapping transcripts and information about the region where it is located (exon, intron, intergenic, etc.), sequence ontology (frameshift, synonymous, etc.), and HGVS notation (g dot, c dot, and p dot) is provided. You can choose to filter against the highest-impact annotation for each variant or the entire set of variant-transcript interactions.


Since GenomeBrowse is built into VarSeq, it is easy to verify coverage across your amplicons. Simply add your BAM and BED files to your project and inspect the pileups directly. GenomeBrowse provides the context you need to have confidence that your upstream sequencing pipeline is working correctly.

No learning curve

Import your data, select a workflow and start exploring. It is that simple! No uploading data. No complicated parameter selection. No difficult file conversions. VarSeq distills the analysis process down to its very essence and removes all roadblocks that get in the way of getting work done.

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.


Enables filtering based on inheritance patterns, affection status, and arbitrary sample groupings.

  • Phenotype Based Gene Ranking: Variants can be prioritized by examining how closely the mutated gene is related to the patient's phenotype. By examining biomedical ontologies that link diseases with genes, the algorithm can rank genes according to the proband's phenotype. These generated rankings can be combined with traditional filtering techniques to quickly surface candidate variants.
  • Powerful Variant Annotation: Included in VarSeq is functionality similar to SnpEff or Variant Effect Predictor. Each variant is mapped to all overlapping transcripts and information about the region where it is located (exon, intron, intergenic, etc.), sequence ontology (frame shift, synonymous, etc.), and HGVS notation (g dot, c dot, and p dot) is provided. Additional statistics, such as distance from coding start, distance from exon boundary, and the number of codons changed make it easy to examine specific classes of variants.
  • Inheritance and Affection Status Based Filtering: VarSeq includes first-class support for workflows that use pedigree, affection status, or custom groupings to define filter criteria. Prebuilt filters are available for most common inheritance patterns. Custom filters can be easily created using family information. Additionally, affection status alone can be used to construct useful segregation analysis of complex family pedigrees to find candidate regions and variants.

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:
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Introduction to VarSeq:
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Try VarSeq for Free

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.