Whole genome and whole exome sequencing are incredible. They’re also… a lot. As in thousands to millions of variants staring back at you, asking for classification, a lot. And while comprehensive data is powerful, most clinical questions don’t require analyzing everything, everywhere, all at once. That’s where Virtual Gene Panels in VarSeq come in. Instead of re-running assays or maintaining… Read more »
February is recognized as Cancer Prevention Month, with World Cancer Day on February 4 serving as a global reminder that improving outcomes in cancer depends on earlier detection, better diagnostics, and faster translation of data into clinical decisions. In precision oncology, early detection no longer stops at identifying the presence of cancer but increasingly depends on detecting the right genomic… Read more »
February is Cancer Prevention Month, a timely reminder that the most effective cancer intervention often happens long before a diagnosis is ever made. For decades, prevention has focused on lifestyle guidance and population-level screening. While important, these approaches overlook a critical reality: cancer risk is highly individualized. Genetics, molecular biology, and drug response all shape who is at risk, when… Read more »
Native Support for WDL As long-read sequencing delivers on its promise, it is awesome to see our customers moving beyond single-nucleotide variants (SNVs) and insertions/deletions (INDELs) into structural variants (SVs), tandem repeats, haplotype phasing, and even methylation signals from the same dataset. But for most labs, the bottleneck is implementation of long-read analysis workflows. Getting a best-practice pipeline to run… 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. January’s customer publications explore pharmacogenomics testing and variants that reveal how specific genetic mechanisms shape human immune responses. Together, these studies highlight the importance of integrated analysis approaches, including VarSeq, in… Read more »
Getting new NGS software up and running shouldn’t feel overwhelming, and with Golden Helix, it doesn’t have to be. Our Field Application Scientist (FAS) onboarding program is designed to help labs get their tertiary analysis started quickly, confidently, and the right way with VarSeq and VSWarehouse. From day one, onboarding is hands-on, interactive, and tailored to your workflows. You’ll work… Read more »
When it comes to cervical cancer, early detection and timely analysis can literally be life-saving. Cervical cancer is the fourth most common cancer in women worldwide, with an estimated 660,000 new cases and around 350,000 deaths each year. Early detection through screening and quick diagnostic support drastically improves outcomes because, when caught early, cervical cancer is among the most preventable… Read more »
In the rapidly evolving field of pharmacogenomics (PGx), laboratories often face a common challenge: balancing standardized guidelines with the need for specialized, lab-specific data. In the past, maintaining custom PGx annotations was difficult and time-consuming, with custom annotation tracks generated using bespoke curation scripts that merged internal data with VarSeq’s default annotations. In this blog post, we discuss how you… Read more »
Diffuse midline glioma (DMG) is one of the most urgent unmet needs in neuro-oncology. This rare, aggressive brain cancer primarily affects children and arises in critical midline structures of the brain, such as the brainstem and thalamus, where surgery is not feasible, and treatment options are severely limited. Its diffuse growth and defining molecular drivers, such as H3-3A K27M, make… Read more »
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 »
We just concluded a defining year for Golden Helix. 2025 was about execution at scale. With major platform releases, national-level adoption, and meaningful progress across pharmacogenomics, oncology, and long-read sequencing, we strengthened our position as a trusted clinical genomics platform for laboratories operating in regulated, high-throughput environments. Below, we reflect on the key accomplishments of 2025 and outline our focus… 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 »
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 »
Short-read sequencing often fails to capture clinically actionable information from challenging genomic regions. While long-read sequencing now enables accurate and comprehensive detection of complex variants, there are still regions of the genome that remain notoriously difficult to analyze. Unfortunately, many of these regions contain genes that are highly relevant to precision medicine. Consider CYP2D6 and CYP2C19, which guide pharmacogenomic dosing… 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 »
