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 »

Running PacBio HiFi Workflows in VSWarehouse 3

         July 30, 2025
Running PacBio HiFi Workflows in VSWarehouse 3 ft. image

Managing long‑read secondary analysis used to mean wrestling with Cromwell servers, custom compute nodes, and a tangle of WDL files. VSWarehouse 3 removes that burden. Drop your PacBio output into a watched folder, and our platform does the rest: spinning up compute, tracking every task, and handing you fully annotated results ready for clinical interpretation. Built‑In Workflows, Ready to Launch To… Read more »

Automating Pharmacogenomics Workflows with VSWarehouse 3: From Variants to Clinical Reports

         July 24, 2025
Automating Pharmacogenomics Workflows with VSWarehouse 3: From Variants to Clinical Reports ft. image

In our recent webcast, we explored how VSWarehouse 3 streamlines and automates pharmacogenomics workflows, transforming raw NGS data into actionable clinical reports. This blog post recaps the webcast, breaking down each component of the standard pharmacogenomics workflows to demonstrate how laboratories can achieve end-to-end automation in pharmacogenomic (PGx) testing. Breaking Down the Pharmacogenomics Workflow VSWarehouse 3 provides users with an… Read more »

Leveraging VarSeq for NGS Quality Control

         July 24, 2025

A crucial step in any next-generation sequencing (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 help users perform their own quality control (QC)… Read more »

Implementing Data Freedom Practices in Your Genomics Workflows

         July 17, 2025

In the world of genomics, data ownership and portability are fundamental principles that every researcher and clinician should embrace. With the increasing complexity of genomic datasets and the critical importance of long-term data accessibility, having the ability to export your data in multiple formats is not just convenient, it’s essential. This is where the gautil export commands shine, providing researchers… Read more »

Enhancing Solid Tumor Analysis with Golden Helix CancerKB

         July 15, 2025

This year, our CancerKB curation team has been hard at work expanding and refining the content that supports cancer variant interpretation and clinical reporting. In addition to staying current with the latest FDA-approved therapies and NCCN Guideline-recommended treatments, the team has taken on a significant new initiative: developing comprehensive diagnostic and prognostic interpretation summaries for the most prominent solid tumors…. Read more »