Golden Helix Blog

Golden Helix Partners with the Austrian Human Genetics Labs to Drive Advancements in Genomic Medicine

Mar 18, 2026

Golden Helix, a global leader in bioinformatics solutions for Next-Generation Sequencing (NGS) and precision medicine, is proud to announce a strategic agreement with the Austrian public medical genetics labs. The agreement aims to enhance the genomic capabilities of multiple laboratories within the country, supporting critical advancements in cancer and hereditary…

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CI-SpliceAI High Confidence Regions

Mar 17, 2026

Introducing CI-SpliceAI High Confidence Regions track Last year, we introduced genome-wide precomputed CI-SpliceAI scores for VarSeq, enabling the detection of splice-altering variants outside of canonical splice motifs. These scores make it significantly easier to identify cryptic splice gains, splice losses, and other splicing events that may be missed by traditional…

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From Genome Haystack to Gene Needle: Virtual Gene Panels in VarSeq

Mar 12, 2026

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…

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Warehouse Workflow Spotlight Part 2

Mar 10, 2026

Native Support for Sentieon In Part 1, we focused on what it means for VSWarehouse 3 (VSW3) to have native support for WDL. This time, we are focusing on built-in workflows for long-read alignment and variant-calling using Sentieon, which can help reduce secondary analysis compute cost and turnaround time. Long-read…

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March Is Colorectal Cancer Awareness Month: Expanding Discovery Through Better Data and Better Analysis

Mar 5, 2026

March is Colorectal Cancer Awareness Month, a time to emphasize prevention through screening while also acknowledging how advances in genomics are reshaping how we understand, detect, and treat colorectal cancer. While colonoscopy remains the cornerstone of prevention, colorectal cancer continues to be one of the most common and deadly cancers…

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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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