At Golden Helix, we’re proud to see how researchers worldwide continue using our software to accelerate discovery and improve clinical decision-making. These October 2025 publications highlight how VarSeq is advancing genetic research across cancer, hereditary disease, and molecular diagnostics. From identifying new variant mechanisms to expanding our understanding of genotype–phenotype relationships, these studies demonstrate how Golden Helix tools empower teams… Read more »
Recently, Golden Helix attended the ASHG 2025 conference, where we had the opportunity to showcase our partnership with Genomenon. This collaboration took center stage at both our booth and Genomenon’s CoLab session, Automating Genomic Workflows: Cutting Interpretation Time, Accelerating Turnaround, and Increasing Diagnostic Yield. Our discussions centered on a problem that every clinical lab faces as variant volumes continue to… Read more »
As Next-Generation Sequencing (NGS) becomes central to modern clinical diagnostics, laboratories are managing more data than ever before, and turning that data into actionable insight requires both precision and scalability. In our recent webcast, Next-Gen Sequencing at Scale: Transforming Per-Sample Outcomes into Institutional Knowledge with VSWarehouse, we explored how Golden Helix’s software ecosystem streamlines NGS analysis, bridging the gap between… Read more »
As whole-genome sequencing becomes routine in clinical practice, variant interpretation remains both the opportunity and the obstacle. VarSeq users can efficiently process and report individual samples using extensive annotations and automated classification tools—but even the most comprehensive databases can leave gaps. Some variants simply aren’t found in ClinVar or ClinGen, leaving analysts without clear direction. This is where Genomenon’s Mastermind… Read more »
Every October, we prepare for spooky surprises — creaky doors, eerie whispers, and shadows that move when no one’s there. But in the world of genomics, at any given time and for any given analysis, there’s another kind of haunting that can appear: the ghost in the pipeline — the incidental finding. 👻 Specters in the Genome As you run… Read more »
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 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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
