Carrier screening, also referred to as preconception genetic screening, helps individuals and reproductive partners understand their risk of passing along autosomal recessive and X-linked genetic conditions to their children. This method is being increasingly adopted as a preventive, population-level health intervention that specifically benefits couple’s or individuals in the family planning stage. With the rise of Next-Generation Sequencing (NGS), genetic… 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 »
When quality metrics generated during secondary analysis are not incorporated into interpretation and reporting, variants are reported without the important context that could affect confidence in the call. The Golden Helix software suite has been designed to help you bring in quality metrics from secondary analysis through to interpretation and reporting. When using VarSeq, it’s essential to leverage the software’s… Read more »
Aberrant splicing is a major cause of human disease, with an estimated 15–30% of pathogenic variants either disrupting an existing splice site or introducing a novel one [1]. While variants that alter the canonical AG/GT dinucleotides are straightforward to detect, those that affect the broader splice motif or activate cryptic splice sites are considerably harder to identify. To address this… Read more »
With our release of VarSeq 3.0.0, we’re excited to highlight one of the most impactful capabilities of our platform: Dx Mode. This program enables VarSeq to be used as a Class A Medical Device, supporting laboratories operating within the European In Vitro Diagnostic Regulation (IVDR). The use of Dx Mode is backed by Golden Helix’s ISO 13485-compliant quality management system…. Read more »
As we gather around the table this season, many of us reflect on family and where we come from, what connects us, and what we pass on. In the field of genetics, these same concepts are explored through the study of inheritance and carrier screening. NGS analysis tools, such as VarSeq, enable users to transition from raw genomic data to… Read more »
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 early development and ocular health. Together, these studies highlight the… Read more »
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 for managing large datasets, running best-practice pipelines, and automating tertiary… 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 »
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 variant is identified on an X-linked gene, there may be… Read more »
Precision oncology moves fast, and labs need tools that can keep up. 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 Helix CancerKB Oncology doesn’t stand still and neither does Golden Helix CancerKB. Our in-house curation team continually reviews… Read more »
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 and data on a shared VSWarehouse location. There were several… Read more »
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 somatic variant analysis to the next level within VSClinical AMP…. Read more »
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) solution enable laboratories to deploy secure, scalable, and compliant cloud-based… Read more »
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 »
