Golden Helix Blog

Rare Disease Day is February 28th

Feb 25, 2026

Rare Diseases: A Global Health Imperative  Rare Disease Day highlights a reality that is often misunderstood. Any single rare disease affects a small number of patients, but rare diseases as a category are not rare at all. Today, more than 7,000 rare diseases have been identified, and many experts place the number closer…

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Customer Publications February 2026

Feb 24, 2026

February’s Clinical Genomics Insights Across Brain Tumors, Rare Missense Variants, and Genetic History of Cattle 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. Our customer publications in February explored…

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Golden Helix to Attend ACMG 2026

Feb 23, 2026

Golden Helix is thrilled to announce our participation at the Annual Clinical Genetics Meeting (ACMG) 2026, where we will be in attendance from March 10th to 14th in Baltimore, Maryland. Visit us at Booth #2318 for a look at VSWarehouse 3 and our Bring Your Own Cloud (BYOC) solution, enabling secure, scalable cloud deployments. Live Software…

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Comprehensive Cancer Variant Analysis in VarSeq

Feb 20, 2026

From Targeted Panels to Long-Read Genomes – Webcast Recap Thank you to everyone who joined our recent webcast, “Comprehensive Cancer Variant Analysis in VarSeq: From Targeted Panels to Long Read Genomes,” presented by Darby Kammeraad and Julia Love on February 18th, 2026. For those who missed it or need a…

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Seeing the Unseen: Reporting on Cancer Fusions with Long-Read Sequencing and Genomenon CKB

Feb 10, 2026

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…

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February is Cancer Prevention Month

Feb 5, 2026

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,…

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Warehouse Support for Long-read Part 1

Feb 5, 2026

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…

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Customer Publications January 2026 | Customer Publications: Clinical Genomics Insights Across Pharmacogenomics and Human Immunology

Jan 29, 2026

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…

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Start the Year Strong with FAS-Led Onboarding at Golden Helix

Jan 27, 2026

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…

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Reducing Cervical Cancer NGS Turnaround Time with VarSeq

Jan 20, 2026

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,…

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Simplifying Custom PGx Annotations with VSWarehouse

Jan 15, 2026

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…

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Diffuse Midline Glioma Research is Evolving and CancerKB Evolves with It

Jan 13, 2026

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…

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New Year, New You! How Diagnostic Labs Can Ride the Genomic Health Wave in 2026

Jan 6, 2026

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…

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Execution at Scale: Advancing Clinical Genomics with Confidence

Jan 1, 2026

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…

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December 2025 | Customer Publications: Clinical Genomics Insights Across Infectious Disease, Pharmacogenomics, and Rare Kidney Disorders

Dec 30, 2025

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…

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Automating Couple’s Carrier Screening Workflows with VarSeq

Dec 16, 2025

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…

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VSWarehouse for Genome Centers: Scalable, Secure Whole-Genome Infrastructure for Modern Sequencing Programs 

Dec 12, 2025

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…

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Considering Data Quality: From Sequencing to Reporting

Dec 11, 2025

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…

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Detect Cryptic Splicing Events with the New CI-SpliceAI Annotations in VarSeq

Dec 10, 2025

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…

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Challenging Genomic Regions: Paraphase Integration in VSWarehouse 3

Dec 9, 2025

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…

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