About Golden Helix

Cryptic Splice Site Detection: How CI-SpliceAI and Whole Genome Sequencing Uncover What Exome Panels Miss

Jun 4, 2026

Aberrant splicing is one of the most consequential and least visible mechanisms driving human genetic disease. While variants disrupting the canonical GT/AG dinucleotides at exon–intron boundaries can be easily detected, some variants silently reshape splicing from deep within introns, far from the regions that targeted panels and whole exome sequencing…

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From Ovarian Cancer to Rare Genetic Disorders: Customer Publications | May 2026

May 28, 2026

In three published studies from this month, researchers used our genetic analysis software to investigate diverse and challenging genetic questions: identifying potential ovarian cancer susceptibility linked to germline ATRIP variants, expanding the clinical and molecular understanding of VPS35L-related Ritscher–Schinzel syndrome, and exploring the genomic landscape of early-onset oral tongue squamous…

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Follow the Fusion: How Gene Fusions Shape Brain Cancer and How VarSeq Finds Them

May 26, 2026

Brain cancer remains one of the most difficult malignancies to treat, which is largely explained by basic biology. The blood-brain barrier (BBB) blocks most systemic therapies from reaching tumor cells, and the molecular heterogeneity of brain tumors makes it hard to find treatment strategies that work broadly. However gene fusions…

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A Decade of Clinical Genomics in Curated Annotations

May 14, 2026

Effective use of data drives efficient, reliable analysis in next-generation sequencing. Users of the VarSeq suite are well-acquainted with the tools that VarSeq supplies to empower users, at the center of which lies a curated collection of clinical annotations that users can leverage in their own customized workflows. In the…

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Long-Read Part 2: Methylation Analysis

May 12, 2026

DNA methylation plays a critical role in gene regulation and is increasingly recognized as a clinically meaningful biomarker in oncology. With the rise of long-read sequencing, we now have the ability to detect base modifications alongside small variants and structural variations. In this post, we’ll walk through how VSWarehouse and…

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Genotype: Unusual GT Fields in Cohort and Trio Analysis

May 7, 2026

If you spend enough time staring at VCF files, you eventually start to feel like you’re reading a secret language. Most of the time, things are straightforward with the Genotype (GT) representation: 0/0, 0/1, 1/1. Easy enough. But then one day, you import your VCFs for a trio analysis and…

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Brain Tumor Awareness Month

May 5, 2026

This May, we’re recognizing #GrayMay, a month dedicated to raising awareness about brain tumors. In this blog post, I want to share something practical regarding precision medicine of gliomas: for gliomas, the diagnosis is no longer based on histology alone. Molecular profiling now helps define the tumor entity, clarify prognosis,…

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Long-Read Part 1: Structural Variant Analysis

Apr 28, 2026

End-to-End Structural Variant Analysis for Long-Read Data with VarSeq and VSWarehouse Long-Read Data Long-read sequencing technologies like PacBio HiFi have transformed our ability to detect structural variants (SVs) with greater accuracy and resolution than ever before. Unlike short-read sequencing, which often struggles to span the repetitive or complex genomic regions…

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DNA Day: Why This Molecule Still Shapes My Journey and the Future of Medicine 

Apr 25, 2026

Every year on DNA Day, I am reminded that few scientific discoveries have had such a long and compounding arc of impact as the elucidation of the DNA double helix. What began as a fundamental insight into the structure of life has steadily evolved into one of the most practical…

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Warehouse Workflow Spotlight: Part 3

Apr 14, 2026

Many labs already use DRAGEN upstream, but want more control over what happens after variant calling is complete. VSWarehouse 3 connects those outputs to downstream tertiary workflows that labs can automate, configure, and adapt to their own interpretation and reporting process. Using DRAGEN with VSWarehouse 3: A Better Path to…

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National Genome Projects are Foundational to Precision Medicine at Scale

Mar 26, 2026

Precision medicine has reached an inflection point. The science is proven, clinical relevance is clear, and the cost of genomic technologies continues to decline. What now determines impact is scale. National genome projects represent one of the most powerful mechanisms for translating genomic science into measurable population health outcomes. By…

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ACMG 2026 Wrap-Up

Mar 19, 2026

This month, members of the Golden Helix team traveled to Baltimore, Maryland, for the 2026 Annual Clinical Genetics Meeting (ACMG). We had such a great time talking to everyone who stopped by our booth to chat, watch our demos, or pick up a t-shirt. Across those conversations, one theme kept…

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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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