Golden Helix Blog

Newly Curated: LitVar2

Sep 22, 2026

Next-generation analysis is driven by the wealth of data curated and published by the experts in genomics space. At Golden Helix, we strive not only to provide seamless integration of input data into customized workflows, but to ensure that our customers can rely on high-quality annotations through our curation efforts.…

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VSWarehouse 3: Automation Frequency Catalogs

Sep 10, 2026

Make Every Variant Assessment Go Further Variant interpretation is one of the most valuable and time-intensive parts of genomic analysis. Each assessment reflects the expertise, evidence, and experience of your laboratory. Any strong interpretation software will provide a means of storing these assessments across cases to leverage the expert knowledge…

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Oncogenicity Guidelines for Somatic Variants: Beyond AMP Tiers

Sep 8, 2026

Ask a germline analyst and a molecular pathologist what a variant means, and you will get answers to two different questions. The germline analyst is asking whether the variant causes an inherited disease. The pathologist is asking whether it is driving this tumor, and whether anything can be done about…

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Prostate Cancer Awareness Month

Sep 1, 2026

Every year around this time, I find myself thinking about the men in my life: fathers, brothers, friends, colleagues, and about a disease that will touch a startling number of them. This year, the numbers are especially hard to look past. The American Cancer Society projects roughly 333,830 new prostate…

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August 2026 Customer Publications

Aug 25, 2026

Genomic research continues to uncover new insights into disease risk, treatment response, and the complex genetic factors underlying human health. This August, we’re excited to highlight three recent publications from our customers that showcase the breadth of questions genomic analysis can help address – from understanding the relationship between type…

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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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