About Golden Helix

October 2026 Customer Publications

Oct 20, 2026

This October, we’re highlighting three customer publications that demonstrate how genomic analysis can support discoveries in rare genetic disorders, neurological conditions, and cancer research. From identifying a novel BORCS8 variant associated with fetal holoprosencephaly, to investigating an ATP1A3 variant linked to an adult-onset PLS-like syndrome, and exploring the genetic mechanisms…

Read more →

Breast Cancer Awareness Month

Oct 1, 2026

The Role of Genomics in Breast Cancer Screening Breast cancer remains one of the most common cancers worldwide, and early detection continues to play an important role in improving outcomes. While traditional screening methods such as mammography are central to detecting breast cancer, advances in genomics are providing new ways…

Read more →

AI as Infrastructure for Clinical Genomics

Sep 25, 2026

Thank you to everyone who joined our webcast, “AI as Infrastructure for Clinical Genomics: Reducing Routine Work, Preserving Expert Judgment.” We explored a practical question for clinical laboratories: as tests move from panels to exomes and genomes, how can we reduce the time spent gathering evidence and writing interpretations without…

Read more →

Two Siblings, Two Diagnoses: Independent De Novo Findings in a Multi-Affected Family

Jun 30, 2026

Family-based analysis is one of the most powerful tools in rare disease genomics. When multiple relatives are affected, investigators naturally look for a shared genetic explanation, often with good reason. Shared inheritance patterns frequently provide the critical clue needed to identify a causal variant. The case described here is a…

Read more →

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…

Read more →

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.

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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,…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →