As interest in personalized health grows, people are looking beyond traditional wellness trends to genomics for clinically actionable insights. Two areas stand out for diagnostic laboratories: pharmacogenomics (PGx) to optimize medication decisions, and rare disease genomics to shorten diagnostic odysseys. The public is increasingly receptive, and the market is expanding rapidly, which creates a strategic opportunity for labs positioned with… Read more »
December 2025 brings a diverse set of customer publications highlighting how advanced genomic analysis is being applied to real clinical and population-scale challenges, from infectious disease susceptibility to pharmacogenomics and rare kidney disorders. Together, these studies underscore the growing importance of integrated variant interpretation, scalable sequencing strategies, and rigorous clinical classification frameworks in translating genomic data into meaningful clinical insight…. Read more »
Thank you to everyone who joined our recent webcast, “VSWarehouse for Genome Centers: Scalable, Secure Whole-Genome Infrastructure for Modern Sequencing Programs,” presented by Gabe Rudy on December 10, 2025. We appreciate the strong attendance and the excellent questions regarding the operational and security needs of modern genome centers. For those who missed it or need a recap, the session focused… Read more »
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 VSClinical AMP. This partnership represents a significant enhancement in somatic… 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 »
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 »
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 »
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 »
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 »
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 »
New to VarSeq 3 is support for breakend catalogs. Breakends represent the junction points of structural variants, which include complex genomic rearrangements like translocations, inversions, and large deletions that play crucial roles in cancer genomics and rare disease analysis. These catalogs are unique as they must save two genomic positions for each record, representing both sides of the structural variant… Read more »
This month, our team at Golden Helix is proud to highlight a series of standout customer publications demonstrating the real-world impact of next-generation sequencing and variant analysis. Featured articles from June 2025 showcase the power of the VarSeq platform in supporting high-quality research across hereditary and somatic disease. From integrating AI to enhance variant detection in colorectal cancer, to reclassifying… Read more »
Here at Golden Helix, we continue to develop top-quality bioinformatic software to support high-throughput clinical next-gen sequencing pipelines, including long-read whole-genome-sequencing (WGS) workflows. WGS long-read technologies like PacBio HiFi and Oxford Nanopore offer improved variant calling for SNVs, Indels, structural variants, tandem repeats and repeat expansions, and epigenetic modifications. Each of these genetic variations that are detected using long-read WGS… Read more »
Next-generation sequencing (NGS) data analysis often involves multiple steps from variant annotation, filtering, interpretation, visualization, and report generation. Repeating these steps manually for each new project can be error-prone and inefficient. In clinical and regulated environments, we recognize that consistency is critical. That’s why VarSeq offers robust support for workflow templates, enabling users to save, share, and reuse entire analysis… Read more »
Modern genomics workflows often require multiple specialized tools working in concert. In the upcoming VarSeq release, we are excited to announce the option for tighter integration with IGV. Genomics researchers and clinicians are well-versed in using IGV as a visualization tool for their genomic data. This new option will allow for synchronizing the view in the Golden Helix GenomeBrowser with… Read more »
In the evolving landscape of genomic medicine, accurate interpretation of complex genetic data is critical for uncovering the molecular underpinnings of rare and undiagnosed diseases. VarSeq, Golden Helix’s robust and intuitive variant analysis platform, continues to empower researchers and clinicians worldwide in this mission. Recent publications highlight how VarSeq enabled novel insights across diverse cases—from the identification of UGDH as… Read more »
Today, we announced the release of VarSeq 3 and VSWarehouse 3, marking a major milestone in enterprise-scale secondary and tertiary genomic analysis. The release introduces cloud-native deployment options optimized for AWS and Azure, expanded support for hybrid and on-premise support, flexible licensing models, including per-sample packaging tailored to small and mid-sized labs. To support these new deployment and licensing models,… Read more »
Golden Helix is thrilled to announce our participation at the European Society of Human Genetics (ESHG) 2025, where we will be in attendance from May 24–26 in Milan, Italy. Visit us at Booth #510 to explore how our cutting-edge solutions in NGS analysis, cancer diagnostics, and clinical genomics are accelerating precision medicine around the globe. Live Software Demos: Experience Innovation… Read more »
ClinVar is a global, publicly accessible database maintained by the National Center for Biotechnology Information (NCBI) that archives interpretations of human genetic variants and their clinical relevance. ClinVar consists of contributions from clinical labs, expert panels, and research groups, and serves as a community-powered knowledge base that is foundational for clinical genetics. This powerful database is expectedly one of the… Read more »
