Golden Helix Blog

You Can Reissue a Credit Card, You Can’t Reissue a Genome

Oct 13, 2026

If someone steals your credit card number, it is an afternoon of annoyance. You call the bank, the card is cancelled, a new one arrives, and the old number is worthless. The system is designed so that a compromised credential can be revoked and replaced. A genome has no such…

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When the Transcript Disagrees with the Genome

Oct 8, 2026

A transcript’s reference sequence does not always match the genome assembly beneath it. Even a one-base difference can shift downstream coding coordinates, alter a codon, or change a variant’s predicted effect. VarSeq 3.1.0 accounts for these differences directly. The new RefSeq Genes track records the exact differences between curated RefSeq…

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Golden Helix to Attend ASHG

Oct 6, 2026

Golden Helix is excited to announce that we will be attending the American Society of Human Genetics 2026 (ASHG) conference from October 20th, through 23rd. Visit us at Booth #525 for a look at VSWarehouse 3 and our Bring Your Own Cloud (BYOC) solution, enabling secure, scalable cloud deployments. Live…

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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…

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September 2026 Customer Publications

Sep 29, 2026

We’re proud to see our customers continuing to push the boundaries of genetic research and molecular diagnostics. Our September publications showcase how advanced genomic technologies can help uncover disease-causing variants, deepen our understanding of rare disease biology, and support the development of more comprehensive diagnostic approaches. From identifying recurrent and…

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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…

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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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