Golden Helix Blog

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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Long Read Part 3: Repeat Expansions

May 19, 2026

Short tandem repeats (STRs) are among the most challenging variants to characterize with traditional sequencing technologies. Many clinically significant STR expansions span hundreds or thousands of base pairs, far exceeding the read lengths of short-read platforms. As a result, countless disease-causing repeat expansions have historically gone undetected in genomic workflows,…

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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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Understanding Cornelia de Lange Syndrome: The Role of Genomics in Finding Answers

May 7, 2026

On International CdLS Awareness Day, we recognize the individuals and families affected by Cornelia de Lange Syndrome (CdLS), a rare developmental condition that highlights both the complexity of human genetics and the importance of accurate, timely diagnosis. CdLS is a genetic disorder typically caused by de novo mutations, meaning the…

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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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April 2026 Customer Publications

Apr 30, 2026

April’s customer publications with clinical genomic insights across healthy aging genes in Super Seniors, chronic kidney disease, and breast cancer risk stratification. 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…

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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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Webcast Recap: CI-SpliceAI for Splice Site Prediction and Variant Interpretation in VarSeq

Apr 16, 2026

We’re grateful to everyone who tuned in for our April 15th webcast, “CI-SpliceAI for Splice Site Prediction and Variant Interpretation in VarSeq,” with presenter Nathan Fortier. If you weren’t able to attend live, here’s a quick overview of what was covered: the ClinGen SVI Splicing Subgroup has released evidence-based recommendations…

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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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Your Variant Knowledge Base

Apr 9, 2026

Getting the Most from Assessment Catalogs in VSWarehouse One of the most frequent questions from our customers is some version of: “How do we keep our team from re-evaluating the same variant every time it shows up in a new sample?” The answer, in nearly every case, is assessment catalogs and more…

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Precision Medicine in Action: Why Testicular Cancer Awareness Month Matters 

Apr 6, 2026

April is Testicular Cancer Awareness Month. This is an opportunity not only to emphasize early detection, but to reflect on how far oncology has advanced in the era of precision medicine. Testicular cancer represents one of the most curable solid tumors in modern oncology. Yet its management illustrates a broader truth: outcomes improve when early clinical vigilance is…

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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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March 2026 Customer Publications

Mar 26, 2026

March’s Clinical Genomic Insights Across immunodeficiency syndromes, oculocutaneous albinism, and ocular genetics 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 March explored immunodeficiency syndromes, oculocutaneous…

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March is Colorectal Cancer Awareness Month:

Mar 24, 2026

How VarSeq Helps Explore the Therapeutic Landscape for CRC Patients Colorectal Cancer Awareness Month for CRC Patients In honor of Colorectal Cancer Awareness Month, we’re taking a close look at how VarSeq’s VSClinical AMP workflow and evidence from Genomenon and Golden Helix CancerKB  can expose the right treatment strategies for…

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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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