Golden Helix Blog

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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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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