Search results for “Cancer”

Recent Publications on Asthma, Schizophrenia, Peripheral Neuropathy, Rheumatoid Arthritis, Alzheimer Disease, and Esophageal Cancer

Feb 17, 2011

As you may have guessed from the title of this post, we’ve had a lot of customers publishing in the first six weeks of 2011. We are always excited to hear about about our customers’ findings and how they were able to use SNP & Variation Suite to accelerate their…

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Recent Publications on Bladder Cancer, Schizophrenia, Childhood IgA Nephropathy, and Ancestry Markers

Nov 5, 2010

Recognition this month begins with Eric Londin at Coriell Institute for Medical Research for his publication in PLoS ONE: “CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.” (Abstract below). Also recently published in PLoS ONE is Chiara Magri with Brescia University School of Medicine on her…

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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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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 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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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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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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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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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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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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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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Your Variant Knowledge Base

Apr 9, 2026

Getting the Most from Assessment Catalogs in VSWarehouse One of the most frequent questions from our customers is some version of: “How do we keep our team from re-evaluating the same variant every time it shows up in a new sample?” The answer, in nearly every case, is assessment catalogs and more…

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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…

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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…

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