Modernized ACMG & Cancer Variant Classification

Jun 23, 2026

How a decade of ClinGen specifications modernized the 2015 ACMG framework, from calibrated in-silico and gnomAD/FAF to cancer oncogenicity (Horak, SVIG-UK), and how VSClinical automates it.

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Work Smarter, Not Harder: Automating Variant Evaluation in VSClinical

Jun 11, 2026

If you’ve ever found yourself clicking through variants one by one, adding them into a VSClinical evaluation, you’ve probably had the thought: there has to be a faster way. Good news—there is. With VSClinical Evaluation Scripts, you can take repetitive, click-heavy workflows and turn them into streamlined, automated processes that…

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Long-Read Part 1: Structural Variant Analysis

Apr 28, 2026

End-to-End Structural Variant Analysis for Long-Read Data with VarSeq and VSWarehouse Long-Read Data Long-read sequencing technologies like PacBio HiFi have transformed our ability to detect structural variants (SVs) with greater accuracy and resolution than ever before. Unlike short-read sequencing, which often struggles to span the repetitive or complex genomic regions…

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March is Colorectal Cancer Awareness Month:

Mar 24, 2026

How VarSeq Helps Explore the Therapeutic Landscape for CRC Patients Colorectal Cancer Awareness Month for CRC Patients In honor of Colorectal Cancer Awareness Month, we’re taking a close look at how VarSeq’s VSClinical AMP workflow and evidence from Genomenon and Golden Helix CancerKB  can expose the right treatment strategies for…

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Streamlining Carrier Analysis with VSClinical

Nov 13, 2025

Carrier screening is an important component of reproductive genetic testing, helping identify individuals or couples at increased risk of passing on inherited conditions to their children. When both partners carry a pathogenic or likely pathogenic variant in the same gene associated with an autosomal recessive condition, or when a pathogenic…

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Stop Hunting for Clinical Evidence: Let Golden Helix CancerKB Do the Work

Nov 11, 2025

Precision oncology moves fast, and labs need tools that can keep up — tools purpose-built for clinical genomics at scale. Golden Helix CancerKB is built for clinical labs that want high-quality, report-ready cancer interpretations without the manual workload or inconsistencies that slow teams down. Stay in the Loop with Golden…

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Precision in Practice: VarSeq and VSClinical in Recent Peer-Reviewed Studies | July 2025

Jul 31, 2025

As next-generation sequencing (NGS) becomes more embedded in clinical diagnostics and research workflows, the ability to confidently interpret and report on genomic findings is more critical than ever. In July 2025, Golden Helix’s software suite continued to play a central role in variant annotation and classification, with publications spanning diverse…

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Leveraging VarSeq for NGS Quality Control

Jul 24, 2025

A crucial step in any NGS analysis is quality control, which is essential for confirming the validity of potentially clinically relevant findings before proceeding with any subsequent variant interpretation or reporting. While Golden Helix does not directly provide NGS validation services, our VarSeq software provides robust analysis tools that can…

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Evaluation Scripts for Importing Structural Variant Calls

Jun 10, 2025

As comprehensive genomic profiling (CGP) becomes the standard in cancer variant analysis, the scale and complexity of next-generation sequencing (NGS) data continue to grow. It is now commonplace to report on small variants, larger amplifications and deletions, various complex structural variants (fusions or breakends) as well as genomic signatures like…

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ACMG STRIKES BACK

May 4, 2023

Use the force of evaluation scripts to automate and customize your VSClinical ACMG workflow in VarSeq 2.4.0. VarSeq 2.3.0 came packed with new features! Most notably, VarSeq variant analysis expanded to support the import and annotation of structural variant files, and the AMP cancer workflow in VSClinical gained new functionality…

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Managing the Scope of Somatic Variants Reported in VSClinical

Apr 13, 2023

Discover the power of VSClinical’s Interpretation Match Behavior options for managing the scope of somatic variants in cancer reporting, enabling clinical teams to make informed treatment decisions. Multiple interpretations can apply to a single biomarker or tumor type. In some circumstances, a clinical team may only want to report the…

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Prenatal Genetic Screening with VarSeq Webinar Highlights

Mar 16, 2023

Explore the cutting-edge capabilities of VarSeq in prenatal genetic screening as we delve into real-life cases, expert analysis, and efficient strategies to quickly assess Whole Exome Sequencing (WES) samples for genetic abnormalities in our recent webinar. Thank you all to those who attended our VarSeq webinar covering prenatal genetic screening!…

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Unlocking Clinical Evidence: A Deep Dive into the Supporting Data Sources of VSClinical AMP Workflow

Feb 7, 2023

Discover the innovative clinical evidence search of the VSClinical AMP workflow, where patient biomarkers and tumor types are matched to the most relevant data from top sources like CIViC, DrugBank, and Clinical Trials. One of the core features of the VSClinical AMP interpretation workflow is the ability to search third-party…

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AMP Manual Deep Dive: VSClinical’s Interpretation for Cancer Biomarker Annotation

Jan 24, 2023

VSClinical AMP Matching of Interpretations  In this blog post, we will delve into the intricacies of the VSClinical AMP interpretation workflow. At the heart of this process lies the task of annotating cancer biomarkers with the correct interpretations based on the classification of the tumor and the type and scope…

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Customizing Your Clinical Reports: Reordering the Variant List

Jun 7, 2022

Oftentimes, the endpoint of a clinical variant analysis is a standardized, clinical report. As such, we ship a number of default templates with VSClinical for users to report their findings. But these templates are just a starting point! Our platform allows users to fully customize their reports to adhere to…

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Integrating Custom Gene Panels for Variant Annotations Q&A Follow Up

Feb 16, 2022

Thanks to all those who attended the recent webcast by Dr. Rana Smalling, “Integrating Custom Gene Panels for Variant Annotations”. If you were unable to attend or would like to recap, here is a link to watch the broadcast. We covered a lot of content regarding virtual gene panels, and…

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Highlights from Advanced Report Customization in VSClinical Webcast: Somatic Reports

Jan 6, 2022

In our previous blog, we covered the highlights of our Advanced Report Customization in VSClinical webcast in the context of germline clinical reports. Now, we bring you the next of the series: somatic clinical reports. In the recent webcast, Advanced Report Customization, we covered a range of somatic-focused clinical reports,…

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Breaking Down ACMG CNV Guidelines in VSClinical

Nov 25, 2021

In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different…

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Top FAS Tricks You Wish You Knew When Getting Started with VSClinical

Nov 18, 2021

As a newer member of the Golden Helix FAS Team I, like many of our customers, went through a phase of learning the ins, outs, and shortcuts of clicking around the program. In an effort to expedite new users coming up to speed, or to teach some tricks to experienced…

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Reviewing Clinical Studies for Novel Splice Variants in VSClinical

Oct 12, 2021

In order to thoroughly assess a variant’s pathogenicity, it is important to take into account the variant’s effect on splicing. While the interpretation of variants that disrupt the pairs of bases at the beginning of a splice site is fairly straightforward, variants resulting in the introduction of a novel splice…

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