Golden Helix Blog

November 2025 | Customer Publications: Genetic Insights Into Rare Ocular and Fetal Phenotypes

Nov 25, 2025

Each month, we highlight new research from the scientific community that advances our understanding of complex genetic diseases and showcases the tools researchers rely on for precise variant interpretation. November’s publications explore three distinct phenotypes: congenital cataract, glaucoma, and fetal lymphatic or venous abnormalities, revealing how specific genetic mechanisms shape…

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Integrating PacBio Somatic Workflows into VSWarehouse 3.0

Nov 21, 2025

As long-read sequencing solidifies its role in clinical and translational research, labs are increasingly seeking streamlined methods to transition from raw data to actionable results. With the release of VSWarehouse 3.0, Golden Helix now supports a fully integrated implementation of PacBio’s somatic workflow, providing users with a powerful, centralized environment…

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Integrating Genomenon Cancer Knowledgebase (CKB) into VarSeq and VSClinical

Nov 19, 2025

Golden Helix’s VSClinical AMP guidelines platform, powered by our Golden Helix CancerKB has long been trusted by clinicians and researchers for generating report-ready clinical cancer biomarker interpretations. To further elevate the coverage and currency of our somatic variant evaluation capabilities, we’ve integrated Genomenon’s Cancer Knowledgebase (CKB) into both VarSeq and…

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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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Introducing VarSeq 3.0.0: Faster, Smarter, Fully Integrated with VSWarehouse 3

Nov 7, 2025

VarSeq 3.0.0 is officially here, and it’s one of our most significant releases yet! The headline feature of this update is full integration with VSWarehouse 3, including a new login system that supports both single-user mode and server-managed authentication. Users can now choose to work locally or seamlessly store projects…

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November Webcast: Simplifying Complex Cancer Data into Actionable Knowledge

Nov 6, 2025

As precision oncology evolves, clinicians and laboratories need tools that can both handle massive genomic datasets and translate those findings into clear, clinically actionable guidance. In our recent webcast, “Simplifying Complex Cancer Data into Actionable Knowledge with Golden Helix CancerKB,” we walked through how Golden Helix CancerKB can take clinical…

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Golden Helix to Attend AMP 2025 in Boston

Oct 30, 2025

Golden Helix is excited to exhibit at the Association for Molecular Pathology (AMP) 2025 Annual Meeting in Boston, Massachusetts, where we’ll showcase our newest advancements in variant interpretation, enterprise genomics, and scalable software deployment. Visit us at Booth #543 to explore how VSWarehouse and our Bring Your Own Cloud (BYOC)…

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October 2025 | Customer Publications: Driving Genomic Innovation with VarSeq

Oct 28, 2025

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…

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Clinical Variant Interpretation at Scale: Reflections from ASHG 2025

Oct 27, 2025

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…

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October Webcast: Scaling NGS Analysis into Institutional Knowledge with VSWarehouse

Oct 24, 2025

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…

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Genomenon’s Mastermind – Novel Splice Variant in PAH

Oct 16, 2025

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,…

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Ghosts in the Pipeline – Haunted by Incidental Findings

Oct 14, 2025

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…

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New in VarSeq 3.0: Location Mapped Breakend Assessment Catalogs

Oct 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…

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Golden Helix to Attend ASHG 2025

Oct 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…

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Reporting Short Tandem Repeats in VarSeq

Sep 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…

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September Webcast Recap: Golden Helix + Genomenon

Sep 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)…

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Integrating Genomenon Mastermind Curated Variants in VarSeq and VSClinical

Sep 23, 2025

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…

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

Sep 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…

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Using VSPipeline to Automate Tertiary Analysis in VSWarehouse

Sep 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…

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