VarSeq 2.2.4 Release 

VarSeq 2.2.4 Release

By Julia Love
Genomic Curator & Product Quality Manager

We are very excited to announce that just last week, we released VarSeq 2.2.4! In the past few months, we have been building the excitement for the 2.2.4 version of VarSeq with several webcasts in which we describe some of the headlining features in detail such as the new support for Gene Panels and Gene Lists, PhoRank Clinical, and Customized Reporting. However, there were so many great features packed into this release I wanted to take the opportunity to showcase some of the other features that you can look forward to incorporating into your VarSeq workflows!... Read More


Using ACMG Secondary Findings v3.0 List in VarSeq and VSClinical

By Gabe Rudy
Vice President of Product and Engineering

As the number of genes on a gene panel increases, there is the possibility of picking up variants of medical significance that are not related to the primary indication for the test. Especially with large gene panels, exomes, and genomes, it is medically and ethically important to report variants that may be actionable to the patient. These include variants implicating hereditary risk of diseases as well as variants in genes associated with highly penetrant early-onset Mendelian disorders such as cardiomyopathy...Read More

VS-CNV Command-Line CNV Tool

VS-CNV Command-Line CNV Tool

By Darby Kammeraad
Director of Field Application Services

If you stay current on the developments of Golden Helix features, you are aware of the substantial evolution of our copy number detection and evaluation capabilities in VarSeq. The process of CNV detection and evaluation is typically handled through the VarSeq graphic user interface. However, in some cases, users benefit from running this process via the command-line interface. Fortunately, Golden Helix seeks to support our users in both realms and this is the case with our VS-CNV command-line tool shipped with the VarSeq software. The purpose of this blog is to expose our users to the VS-CNV command-line tool so as to provide an alternative CNV calling approach... Read More



CEO Corner
New eBook: Clinical Variant Analysis for Cancer

The year 2021 has been exceptional for our organization highlighted by our third consecutive year of being named to the Inc. 5000 list of fastest-growing private companies and exceptional software developments including our most recent VarSeq 2.2.4 release. Golden Helix is preparing for our goals in the new year which I am looking forward to sharing with everyone on our blog in January 2022. It goes without saying that we are incredibly grateful for your continued support and partnership this year. All of us at Golden Helix would like to send everyone best wishes this holiday season and hopefully a new year that is filled with happiness, health, and success for you. Cheers to 2022!

Recent Webcast

Advanced Report Customization in VSClinical

Presented by Dr. Rana Smalling and Jennifer Dankoff, Field Application Scientists

This webcast covered the processes of our standardized VSClinical Reports, then dove into the greater realm of customized reporting available to our Golden Helix customers.

The following was covered as well:

  • Example reports that ship directly with the software for single sample, family, germline, and somatic reporting
  • Showcase various examples of other customized reports to show our viewers potential customization capabilities
  • Exposure to custom JavaScript reporting in machine-readable formats as opposed to the standard Word or PDF-based reporting suitable for the patient

In a recent follow-up blog post, we have showcased three styles of our shipped germline-focused clinical report templates based on ACMG Guidelines. Click below to watch the recent webcast.

Watch Now
Customer Success

Congratulations to all of our customers who have published this month! To highlight just a few:

The Impact of Somatic Mutations upon the Response to Combination Therapy with Ruxolitinib and Interferon in MPN PatientsAnalyses of oligodontia phenotypes and genetic etiologies - Vibe Skov & colleagues, Zealand University Hospital / Published in blood by American Society of Hematology

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing - Melissa Southey & colleagues, Department of Clinical Pathology, The University of Melbourne / Published in Nature Portfolio Journal: Breast Cancer

About Golden Helix

Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.