Golden Helix Blog

June 2026 Customer Publications

Jun 24, 2026

Advancing rare disease diagnosis and hereditary cancer research requires both cutting-edge technology and scientific collaboration. We’re pleased to highlight several recent publications from our customers, showcasing how comprehensive genomic analyses can uncover complex disease mechanisms that may be missed by conventional testing approaches. From identifying novel causes of childhood-onset neurodegeneration…

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Modernized ACMG & Cancer Variant Classification

Jun 23, 2026

How a decade of ClinGen specifications modernized the 2015 ACMG framework, from calibrated in-silico and gnomAD/FAF to cancer oncogenicity (Horak, SVIG-UK), and how VSClinical automates it.

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World Sickle Cell Awareness Day

Jun 18, 2026

From a Single Mutation to Informed Family Planning Every year on World Sickle Cell Awareness Day, we reflect on how a single change in our DNA can ripple across generations, populations, and healthcare systems worldwide. Sickle cell disease (SCD) is one of the most powerful examples of this reality, where…

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What We Heard at ESHG 2026: Clinical Genomics is entering Main Street

Jun 17, 2026

We’re back from ESHG 2026 in Gothenburg, and Booth #464 turned out to be one of the better vantage points we’ve had in years for taking the temperature of the field. Thank you to everyone who stopped by, stayed for the longer conversations or simply grabbed a t-shirt. It was…

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Work Smarter, Not Harder: Automating Variant Evaluation in VSClinical

Jun 11, 2026

If you’ve ever found yourself clicking through variants one by one, adding them into a VSClinical evaluation, you’ve probably had the thought: there has to be a faster way. Good news—there is. With VSClinical Evaluation Scripts, you can take repetitive, click-heavy workflows and turn them into streamlined, automated processes that…

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Pharmacogenomic Variants That Differ Across Populations

Jun 9, 2026

Pharmacogenomic (PGx) testing tailors drug selection and dosing to a patient’s genetic profile, reducing adverse drug reactions and improving therapeutic outcomes. The clinical recommendations that drive PGx, published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the FDA, are evidence-based and guideline-backed. However, many of the most clinically important PGx…

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Golden Helix to Attend ESHG 2026

Jun 8, 2026

Golden Helix is thrilled to announce our participation at the European Society of Human Genetics conference (ESHG) 2026, where we will be in attendance from June 13th to 16th in Gothenburg, Sweden. Visit us at Booth #464 for a look at VSWarehouse 3 and our Bring Your Own Cloud (BYOC) solution, enabling secure, scalable cloud…

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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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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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