New in VarSeq 3.0: Location Mapped Breakend Assessment Catalogs

         October 8, 2025

Breakends (BNDs) represent the precise genomic coordinates where DNA is rearranged in structural variants such as translocations, inversions, and complex rearrangements. Analyzing breakends in NGS analysis is important because they capture the exact “breakpoints” of structural alterations, enabling accurate identification of gene fusions, large deletions, or other events that can disrupt or activate genes of clinical relevance. Systematically tracking how… Read more »

Golden Helix to Attend ASHG 2025

         October 2, 2025

Golden Helix is thrilled to announce our participation at the American Society of Human Genetics (ASHG) 2025, where we will be in attendance from October 15-18 in Boston, Massachusetts. Visit us at Booth #1155 for a look at VSWarehouse 3 and our Bring Your Own Cloud (BYOC) solution, enabling secure, scalable cloud deployments. Live Software Demos: Experience Innovation in Action Discover how Enterprise Genomics enhances clinical workflows with seamless… Read more »

Reporting Short Tandem Repeats in VarSeq

         September 30, 2025

Short Tandem Repeats (STRs) are increasingly recognized as clinically important genetic variants, contributing to a wide range of rare inherited disorders. Historically, the analysis and clinical reporting of STRs have been challenging due to limitations in both sequencing technologies and interpretation frameworks. With the advent of long-read sequencing technologies and the advanced secondary analysis pipelines provided by PacBio, Oxford Nanopore,… Read more »

September Webcast Recap: Golden Helix + Genomenon

         September 26, 2025

Golden Helix is excited to spread the word about our partnership with Genomenon, a genomic intelligence giant! We recently presented a joint webcast featuring Dr. Nathan Fortier, Director of Research, Dr. Rana Smalling (Field Application Scientist), members of the Golden Helix team, and Denice Belandres (Senior Manager of Customer Success) from the Genomenon team. This webcast demonstrated how VarSeq integrates… Read more »

Integrating Genomenon Mastermind Curated Variants in VarSeq and VSClinical

         September 23, 2025
Integrate Genomenon Mastermind with VarSeq to fill evidence gaps, streamline ACMG classification, and improve variant interpretation.

When performing variant classification using VarSeq’s ACMG classifier, a large number of variants inevitably fall into the category of variants of uncertain significance (VUS). This is because much of the evidence required for confident classification cannot be programmatically evaluated. Take PS3, for example, the criterion for functional evidence. This criterion requires well-established in vitro or in vivo studies, but assessing… Read more »

From Rare Disease to Cancer and Neurodegeneration: Customer Publications | September 2025

         September 18, 2025

In recent years, the adoption of advanced bioinformatics platforms has enabled clinicians and researchers to identify novel variants, characterize complex inheritance patterns, and better understand the clinical impact of genetic disorders. Below are publications from customers in September 2025, showcasing the work built upon the trusted capabilities of our VarSeq and VS-CNV software to annotate, filter, and interpret genomic variants… Read more »

Using VSPipeline to Automate Tertiary Analysis in VSWarehouse

         September 17, 2025

In this blog post, I’ll highlight the benefits of using VSPipeline to automate tertiary analysis in VSWarehouse. Users can now run VSPipeline project creation as a standalone task or a final step in a bioinformatic workflow without writing code. Simply use one of our shipped VarSeq projects or create your own, then automate that project as a template that can… Read more »

Introducing VSWarehouse 3 Installation Cloud Servers

         September 15, 2025
Deploy VSWarehouse 3 on AWS or Azure with guided scripts, secure setup, and scalable genomic analysis in one platform.

As precision medicine advances, clinicians and diagnostic labs face an ever-increasing volume of genetic data and analytical complexity. Meeting this demand requires tools that streamline data management and automate bioinformatic workflows to deliver timely, accurate diagnoses. By bringing data management, diagnostic workflow automation, and reporting into a single platform, VSWarehouse 3 provides the foundation that laboratories need to scale precision… Read more »

Austrian Society for Human Genetics: ÖGH 2025

         September 11, 2025
Österreichische Gesellschaft für Humangenetik (ÖGH) ft. Image

Golden Helix is excited to announce that we are a sponsor of the 24th Annual Meeting of the Österreichische Gesellschaft für Humangenetik (ÖGH), taking place on 26 September 2025 at the Kepler Universitätsklinikum in Linz, Austria. This year’s meeting, including the ÖGH‐Tagung with a Farewell Symposium, brings together leading human genetics researchers, clinicians, and students from Austria and Europe. The… Read more »

Webcast Recap: Secondary NGS Workflow Automation in VSWarehouse

         September 5, 2025

Recently, Golden Helix Field Application Scientists Rana Smalling and Andrew Legan led a webcast on Secondary NGS Workflow Automation in VSWarehouse. The presentation walked through the process of turning FASTQ data into completed VarSeq projects and clinical reports with just a click of a button. During the Q&A, a few key topics were raised, and we’ll discuss those further in… Read more »

VarSeq 3.0.0 to Bring a Major Overhaul to Assessment Catalogs

         September 2, 2025

We’re thrilled to announce that VarSeq 3.0.0 is right around the corner, and with it comes one of the most exciting updates yet: a complete reimagining of the Assessment Catalogs system. Whether you’re curating clinically relevant variants, tracking tumor-specific calls, or building rich catalogs of sample information, the new system is designed to be more powerful, more versatile, and easier… Read more »

Golden Helix and Genomenon Announce Strategic Partnership to Advance Clinical Diagnostics

         September 2, 2025

Today, we announced a strategic partnership with Genomenon to integrate its Mastermind Genomic Intelligence Platform and Cancer Knowledgebase (CKB) into the Golden Helix software suite. This collaboration combines two industry-leading platforms to enhance genomic interpretation and deliver high-confidence, literature-backed insights to clinical laboratories worldwide. Through this integration, Golden Helix customers gain seamless access to Genomenon’s expertly curated germline and somatic… Read more »

August 2025 Customer Publications: Applications in Cancer, Prenatal Testing & Rare Disease

         August 26, 2025

At Golden Helix, we get to see firsthand how our software enables groundbreaking research around the world. Our tools are central to real-world discoveries, from cancer studies and prenatal diagnostics to uncovering new genetic links in rare diseases. These publications from August 2025 showcase how VarSeq and VSPipeline are helping researchers push the boundaries of what’s possible—automating workflows, streamlining variant… Read more »

Upcoming in Assessment Catalogs: Easy Search and Retrieval of Classified Variants in VarSeq 3.0

         August 25, 2025

Variant interpretation is an iterative process, and over time, labs can accumulate a large collection of reviewed variants. Managing these interpretations efficiently is critical for saving time, reducing redundancy, and maintaining consistency across projects. VarSeq assessment catalogs serve as a central repository for storing variant classifications, interpretations, and supporting details. They capture key information such as: These catalogs make it… Read more »

The Golden Helix Team is Growing: Introducing Our Newest Team Members

         August 21, 2025
Golden Helix

Golden Helix is excited to welcome a group of talented individuals who bring a wide range of backgrounds, experiences, and professional skills to the table. Each of our new team members adds their unique expertise and perspective, strengthening our ability to serve the genomics and precision medicine community. With that, we’re pleased to introduce: Sam Morreall, Area Director of Sales… Read more »

Defining HLA Diplotypes for Pharmacogenomics

         August 14, 2025

In the dynamic field of pharmacogenomics (PGx), the human leukocyte antigen (HLA) system stands out as a critical factor in personalizing drug therapies, particularly in avoiding severe adverse reactions. However, as highlighted in a comprehensive review on the HLA system’s genetics and clinical testing, these genes are notoriously challenging to analyze due to their extreme polymorphism, complicating alignment and variant… Read more »

Improving the Quality of CNV Analysis in VarSeq

         August 13, 2025

High-quality copy number variant (CNV) analysis begins with a well-designed assay and optimized sequencing workflow. Foundational quality measures deployed in VarSeq include building an appropriate reference set for coverage normalization, ensuring sufficient sequencing depth, and maintaining consistency in both the sequencing platform and library preparation methods. These steps help ensure robust data and reliable CNV detection. However, additional post-project refinement… Read more »

5 Things I Wish I Knew When Getting Started With VarSeq

         August 7, 2025

As a new member of Golden Helix’s Field Application Services team, I’ve recently been diving into the capabilities of VarSeq and our broader software suite – an experience every new VarSeq user goes through. If I could schedule a training call with my former self, there are some key points I’d share to help hit the ground running. Here are… Read more »

Take Control Over Your Variant Assessment Catalogs

         August 5, 2025

Over the past several months, we’ve highlighted the powerful new capabilities introduced with VarSeq Warehouse 3.0. Today, I’d like to focus on a familiar feature that’s been thoughtfully enhanced, assessment catalog record management. This update significantly improves data quality, role-based collaboration, and regulatory compliance. Variant assessment catalogs have always been a core component of the VarSeq platform, allowing users to… Read more »

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

         July 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 clinical contexts, from population-wide secondary findings to rare disease diagnostics… Read more »