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February is Cancer Prevention Month

Feb 5, 2026

February is Cancer Prevention Month, a timely reminder that the most effective cancer intervention often happens long before a diagnosis is ever made. For decades, prevention has focused on lifestyle guidance and population-level screening. While important, these approaches overlook a critical reality: cancer risk is highly individualized. Genetics, molecular biology,…

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Variant Interpretation with VSClinical: RET-KIF5b Gene Fusion

Sep 24, 2019

Gene Fusion Background Gene fusions are hybrid genes that result from translocations, interstitial deletions, or chromosomal inversions that can lead to constitutive gene activation and result in increased or abnormal protein production. Increased or abnormal protein production subsequently can play an important role in tumorigenesis and thus identifying and evaluating…

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Updated Annotations: The New and Improved gnomAD 2.1.1

Sep 19, 2019

The Broad Institute team led by Dan MacArthur announced the release of gnomAD version 2.1 at last year’s ASHG conference. This new version boasted data from 125,748 exomes and 15,708 genomes, but the greater updates were the improved QC refinement and more discrete sub-population break downs. Although the majority of…

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Automating & Standardizing Your NGS Workflow

Jul 30, 2019

As our regular customers may know, we write our blogs to provide relevant content to any NGS-based analysis with VarSeq. Our goal here at Golden Helix is to provide top quality software and guidance on how to use the software efficiently to perform variant analysis. However, this blog series will…

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Optimizing your CNV Analysis in VSWarehouse

Oct 16, 2018

We recently hosted a webcast covering the value and application of VSWarehouse through VarSeq. Not only is VSWarehouse a solution for storing your NGS data in a central repository, but it also provides a means to enhance the tertiary analysis done in VarSeq. VSWarehouse will store all your sample/variant data but also stores your catalogs of pathogenic variants, clinical reports, and has the capability…

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Using the GRCh38 Reference Assembly for Clinical Interpretation in VSClinical: Webcast Q&A

Sep 27, 2018

This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing [email protected]. Does VSClinical come with support for the new reference genome? Yes! We worked hard to make everything work in VSClinical regardless of…

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Annotation Education Series: Cancer Annotations

Oct 5, 2017

CIViC The Clinical Interpretations of Variants in Cancer, better known as CIViC, is an open access open source, community-driven web resource available to all VarSeq users. Nature Genetics published an article that states, “CIViC accepts public knowledge contributions but requires that experts review these submissions”. Fundamentally, the focus behind CIViC…

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Golden Helix, Inc. – Your Annotation Curation Station

Jun 15, 2017

The current reduced cost and increase availability of genome sequencing has been making academics, clinicians and individuals alike excited with the possibility of increased research depth, diagnosing capability and personal curiosity. And although a freshly sequenced genome is chock-full of tasty letter snippets, the real revelation and education occurs when…

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Utilizing VSReports in Your Clinical Workflow

Jan 12, 2017

Clinical labs need to be able to process samples down to a short list of variants and publish a professional report. VSReports helps scientists and clinicians alike create timely, actionable reports that can improve clinical decision making and streamline patient care by seamlessly incorporating the results of tertiary analysis into…

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Agrigenomics 2.0 Webcast

Oct 27, 2016

This month’s webcast, Agrigenomics 2.0 – Advanced Analysis to Accelerate Discovery, will feature two well known Agrigenomic researchers and long-time Golden Helix customers, Christopher Seabury of Texas A&M and Holly Neiburgs of Washington State University. These two will join our own Gabe Rudy for a look at advanced workflows in SVS to…

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Upcoming Webcast on CNV Calling of Target Regions

Sep 27, 2016

Copy Number Variations (CNVs) play an important role in human health and disease, and the detection of CNVs in clinical samples has the potential to improve clinical diagnoses and inform treatment decisions. Yet until now, if you wanted to have CNVs on your targeted gene samples, you would need an…

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Let There Be Genomes: Big Data Genomics Webcast Teaser

Sep 15, 2016

Big data is here, but fear not, you don’t need a Hadoop cluster to analyze your genomes or your cohorts of tens of thousands of samples! It turns out, for the kind of algorithms employed in variant annotation and filtering, running optimized local programs is often faster anyway. As we…

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Guest Webcast by Dr. Rohan Palmer

Aug 4, 2016

Dr. Rohan Palmer presents: Investigating Shared Additive Genetic Variation for Alcohol Dependence Wednesday, August 10th @ 12pm EDT Abstract: Molecular genetic research has supported the use of a multivariate phenotype representing alcohol dependence in studies of genetic association. One recent study found that additive genetic effects on Diagnostic and Statistical Manual…

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Precision Medicine Leverages Innovative Tech Advances

Jul 26, 2016

We are excited to announce that earlier this month an article by our CEO, Dr. Andreas Scherer, was featured in Chronicle Pharmabiz. The article is focused on how Precision Medicine is becoming a reality by leveraging the advances in technology. The excerpt below is courtesy of Chronicle Pharmabiz. Almost 2,500…

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Custom Filtering using ClinVar Annotations

Jul 19, 2016

ClinVar is one of our most used annotations sources for a variety of workflows. It is also the public annotation source that is updated most frequently of all the sources currently supported in VarSeq. ClinVar provides new versions of their database once a month in several formats (XML, VCF, TXT).…

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Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Jul 14, 2016

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront…

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Whole Exome Sequencing workflows in VarSeq

Jun 14, 2016

Whole exome sequencing workflows using SNP & Variation Suite (SVS) was presented in a recent webcast, by Dr. Robert Hamilton from the Hospital for Sick Kids. In particular, he performed some filtering on his data to look for only heterozygous variants in his sample of interest, removed variants with allele frequency…

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Diagnosing Rare Disease at King Abdulaziz Medical City

Jun 9, 2016

King Abdulaziz Medical City (KAMC) in Riyadh commenced its operations in May 1983. Since then, it has continued expanding, while providing services for a rapidly growing patient population in all of its catchments areas. Today, King Fahad National Guard Hospital has evolved to be part of the King Abdulaziz Medical…

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20 Most Promising Biotech Technology Solution Providers

Mar 31, 2016

Golden Helix Featured in 20 Most Promising Biotech Technology Solution Providers for 2016! This month, CIO Review released a Biotech Technology Special in which Golden Helix was named among the 20 most promising biotech technology solution providers for 2016. Read the interview with our CEO, Andreas Scherer here: Empowering Precision…

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Getting Started with VSWarehouse – The User Experience

Mar 24, 2016

Wednesday, April 6th 12:00 pm EDT As the number of samples and associated data volume in a testing lab increases, it becomes imperative for labs to leverage state of the art warehousing technology that not only organizes data, but also aides and enables researchers and clinicians to perform further analysis,…

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