VarSeq Software


provides simple, fast, and repeatable variant discovery and interpretation for gene panels, whole exomes, and whole genomes.

VarSeq for the Clinic

VarSeq's templated workflows allow you to increase your lab's speed and efficiency while obtaining the reproducibility needed for CLIA and CAP certified analysis.


VarSeq for Research

VarSeq accelerates the discovery of rare, high-impact variants in family-based analysis, case-control studies and single sample workflows using exome or whole genome data.


Intuitive 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.

Industry Leading Data 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 annotation curation process ensures that the data is of high quality and will work with your imported variants. While the current versions of these databases are always available, past versions are also accessible. 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.

Available Annotations:

  • ClinVar
  • SIFT and PolyPhen
  • Ensembl Genes
  • GENCODE Genes
  • OMIM
  • dbSNP
  • RefSeq Genes
  • NHLBI 6500 Exomes
  • Client Specific Annotations

Control Your Data

VarSeq allows you to maintain control of your data. Your data remains on your computer so you don't have to worry about cloud security, long term storage, or network access. All annotations, algorithms, and workflows are stored on your computer, giving you confidence that your results are consistent from one sample to another.

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.

System Requirements

  • 4GB of RAM
  • Multicore CPU
  • 100GB of space available for annotations and projects
  • 32 or 64-bit Windows 7, 8, 8.1; 64-bit Linux, Ubuntu 12.04, RHEL6+; or Mac OS X 10.7+

Related Resources

Case Study - Ben Darbro, University of Iowa
Dr. Benjamin Darbro

Benjamin Darbro uses VarSeq for Clinical Testing

Read the case study »

Webcast - Getting Started with VarSeq

Learn more »

Blog Post - Variant Normalization
Variant Normalization

Every variant in the human genome has infinite representations!

Read the blog post »

View a sample project in VarSeq
Download VarSeq Viewer

Explore a gene panel or trio analysis project in VarSeq - FREE!

Download VarSeq Viewer »

VarSeq ® Software is intended for Investigational Use Only. The performance characteristics of this product have not been established.