Golden Helix Blog

Decoding the New ACMG Guidelines in VarSeq

Aug 24, 2026

Webcast recap | August 12, 2026 Darby Kammeraad, Director of Field Application Sciences · Tommy Carter, PhD, Technical Field Application Scientist ACMG classification has been quietly rebuilt over the last eight years. The 2015 framework [1] is still the industry baseline, but a decade of ClinGen Sequence Variant Interpretation (SVI) guidance has…

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Customizing the ACMG Classifier

Aug 11, 2026

In our post, ACMG Guidelines for Variant Classification: 2015 to v4 – The Golden Helix Blog, we toured the ACMG classifier’s evidence sources, including the new CI-SpliceAI and Missense Pathogenicity annotations. Beyond these new computational sources, one of the biggest changes in the upcoming VarSeq release is how configurable the…

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ACMG Guidelines for Variant Classification: 2015 to v4

Aug 6, 2026

The ACMG/AMP guidelines have anchored germline variant classification since 2015. The vocabulary they introduced, Pathogenic through Benign, is now the shared language of clinical genomics, and the criterion codes (PVS1, PS3, PM2, PP3, BA1) are spoken aloud in variant review meetings every day. What is easy to miss is how…

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July 2026 Customer Publications

Aug 4, 2026

For July, we’re highlighting three studies that demonstrate the power of genomic analysis across diverse applications: improving liquid biopsy approaches for monitoring cancer through circulating tumor DNA, uncovering genetic diversity among important grape varieties to support viticulture and breeding, and exploring how genetic variation in APOE influences inflammatory responses linked…

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Secondary Analysis in VSWarehouse, Part 2: Long-Read Analysis Made Simple

Aug 4, 2026

Heading Part 1 of this series covered short-read secondary analysis and the operational infrastructure VSWarehouse brings to it. Long-read sequencing changes what secondary analysis can see in the first place: a repeat expansion counted directly instead of inferred from coverage, near-identical gene copies separated by their unique flanking sequence, and…

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What Your VarSeq Upgrade Won’t Tell You

Jul 30, 2026

Why Every New Customer Starts on VarSeq 3 Today, every new Golden Helix customer starts on VarSeq 3, our clinical variant analysis platform, and for good reason: sharper structural variant handling, a rebuilt assessment catalog system built to scale with years of clinical data, refined annotation, and a stronger reporting…

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Secondary Analysis in VSWarehouse, Part 1

Jul 15, 2026

One-Click Secondary Analysis in VSWarehouse A child with an undiagnosed condition has, on average, seen seven specialists and waited more than four years before receiving a genetic diagnosis. A cancer patient waiting on somatic variant results to determine whether an EGFR-targeted therapy is appropriate sits in treatment limbo measured in…

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Golden Helix’s 2026 T-Shirt Design Competition

Jul 13, 2026

If you’d like to participate in this year’s contest, please submit your information and sketch to [email protected] by August 15th, 2026.   Calling all creatives, scientists, and pun enthusiasts: Golden Helix is excited to announce the launch of our 2026 T-Shirt Design Competition! As we get ready for another exciting conference…

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July is Sarcoma Awareness Month

Jul 2, 2026

Every July, the cancer awareness calendar fills up with well-known ribbons and runs. Sarcoma rarely makes the list, and that silence costs lives. Sarcoma is a cancer of connective tissues: bones, muscles, tendons, fat, nerves, and blood vessels. It can occur anywhere in the body, at any age. Unlike the…

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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…

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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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