Golden Helix Blog

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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Introducing VSWarehouse 3 Installation Cloud Servers

Sep 15, 2025

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…

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Austrian Society for Human Genetics: ÖGH 2025

Sep 11, 2025

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…

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Webcast Recap: Secondary NGS Workflow Automation in VSWarehouse

Sep 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…

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VarSeq 3.0.0 to Bring a Major Overhaul to Assessment Catalogs

Sep 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…

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Golden Helix and Genomenon Announce Strategic Partnership to Advance Clinical Diagnostics

Sep 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…

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

Aug 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…

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

Aug 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.…

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

Aug 21, 2025

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,…

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Defining HLA Diplotypes for Pharmacogenomics

Aug 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…

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Improving the Quality of CNV Analysis in VarSeq

Aug 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…

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5 Things I Wish I Knew When Getting Started With VarSeq

Aug 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…

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Take Control Over Your Variant Assessment Catalogs

Aug 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…

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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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Running PacBio HiFi Workflows in VSWarehouse 3

Jul 30, 2025

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…

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

Jul 24, 2025

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…

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Leveraging VarSeq for NGS Quality Control

Jul 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…

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Implementing Data Freedom Practices in Your Genomics Workflows

Jul 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.…

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Enhancing Solid Tumor Analysis with Golden Helix CancerKB

Jul 15, 2025

This year, the Golden Helix 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…

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