Author Archives: Golden Helix

Golden Helix at AMP 2024: Advancing Precision Oncology and NGS Analysis

         November 12, 2024

Golden Helix is excited to announce our attendance at AMP 2024 in Vancouver, British Columbia, from November 21 to 23. Visit booth #1511 to discover how our latest advancements in cancer capabilities, automation, and clinical diagnostics can transform your genomic workflows and precision medicine applications. Live Demos: Experience the Latest Innovations Stop by our booth to see Golden Helix solutions… Read more »

Golden Helix at ASHG 2024: Come Say Hi and Check Out Our Latest Innovations!

         October 29, 2024

Guess what, Golden Helix users and interested parties? We will be front and center at the ASHG 2024 Annual Meeting in Denver, Colorado, from November 6-8—and we’ve got a ton to share with you. If you’re attending, make sure you swing by booth #959 because we’re bringing some great new information on our latest updates that are going to take… Read more »

VarSeq Early Capabilities for Analyzing DNA Methylation

         September 12, 2024

DNA methylation is becoming more relevant as a clinically important biomarker, and long-read pipelines are making it easy to get this information in the same sequencing run as small variants and larger structural variants. Even though there are no official guidelines for addressing DNA methylation, it is still useful to analyze and evaluate this data, so we would like to… Read more »

VarSeq Annotation and Filtering Use Cases

         September 3, 2024

The following customer publications showcase the ability of VarSeq. Each study demonstrates the abilities of VarSeq’s annotation and filtering of variants and the ease of identifying with our software. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical… Read more »

eBook Release: Pharmacogenetics

         February 27, 2024

Welcome to our engaging journey through the fascinating world of pharmacogenetics! In this friendly guide, we’re going to explore how our unique genetic makeup influences the way we respond to medications. It’s all about making medicine more personalized and effective for everyone. This eBook, Pharmacogenetics takes you into the world of a cutting-edge field at the intersection of genetics and… Read more »

Management of Large-Scale Genomic Data with VarSeq Warehouse

         December 14, 2023

VarSeq Warehouse is the solution provided by Golden Helix for management of large-scale genomic data. It serves a centralized, indexed variant repository that stores variants and assessments from selected samples or projects. Management of large-scale genomic data with VSWarehouse allows entire teams, including collaborators, to manage various high level aspects of their NGS workflows, such as allele frequency tracking across… Read more »

We are Heading to ASHG 2023!

         October 20, 2023

Explore the Newest Developments in Variant Classification and Interpretation Tools at Booth 506 at ASHG 2023 Join Golden Helix at the American Society of Human Genetics (ASHG) 2023 conference and delve into the latest advancements in genetic research. This esteemed event brings together distinguished researchers, clinicians, and industry frontrunners to exchange knowledge on the most recent insights in human genetics…. Read more »

We are headed overseas to BioJapan 2023!

         October 5, 2023

As the global biotech community converges on Yokohama for BioJapan 2023, we are thrilled to announce that Golden Helix will be exhibiting at Booth D55. This premier event offers a unique opportunity for industry leaders, researchers, and professionals to come together, collaborate, and drive the future of biotechnology. And for us, it’s a chance to showcase how Golden Helix is… Read more »

Golden Helix Receives New NIH SBIR Grant  

         September 26, 2023

Pharmacogenomics Workflow: Identifying Biomarkers and Treatment Options  BOZEMAN, Mont. – Sep. 26, 2023 – Golden Helix, Inc. announced that it was awarded the NIH SBIR Grant 1R43HG013456-01 “Pharmacogenomics Workflow: Identifying Biomarkers and Treatment Options.”  Personalized medicine leveraging pharmacogenomics is gaining momentum to optimize drug choice, dosage, efficacy, and safety for individual patients. This grant allows Golden Helix to research pharmacogenetics… Read more »

Golden Helix is Celebrating 25 Years of Excellence

         September 19, 2023

Golden Helix Inc. celebrates 25 years as a leader in the genomics landscape. Built on solid Montanan values of work ethic and reliability, our journey began with Dr. Christophe Lambert’s vision in 1998. Our early triumphs in Genome-Wide Association Studies set the stage, but 2013 brought a transformative shift. Under Dr. Andreas Scherer’s leadership, we ventured into the clinical arena… Read more »

Questions from Webcast: Evaluating Cloud vs On-Premises for NGS Clinical Workflows

         May 23, 2022

In the era where cloud-based solutions are the default for the modern office, it may not be obvious why many laboratories and testing centers choose to host their data and analysis pipelines on-premises or on self-managed cloud services. In the recent webcast Evaluating Cloud vs On-Premises for NGS Clinical Workflows, I explored the topic of how to make infrastructure decisions… Read more »

ESHG 2021 Corporate Satellite Talks

         August 26, 2021
ESHG

Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun, 29 August, 14:00-15:00. This will be moderated by Golden Helix… Read more »

How a neonate’s rash can be one of your most important pieces of data: making phenotypic info statistically tractable for clinical diagnostics

         August 5, 2021

I remember visiting a patient in the NICU amongst the incubators, some glowing blue like tiny tanning beds to treat jaundice, all containing tiny humans – many smaller than a loaf of bread. Infants get admitted into the neonatal intensive care unit or NICU for many reasons ranging from elevated bilirubin, hypoglycemia, sepsis, and respiratory distress (RDS). Many are eventually… Read more »

Merged gnomAD Genomes and Exomes Annotation Source

         July 15, 2021
CNV Annotations

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects (1). We have covered this annotation in-depth in other blog posts, but this resource contains over 125,000 exome sequences and around 16,000 whole genome… Read more »

An end to diagnostic odysseys?

         July 13, 2021

Could leveraging CNV analysis for whole exome or genome sequencing help provide answers for the undiagnosed? Roughly 4% of the world’s population shares one common desire – a diagnosis (1). Though it may seem counterintuitive, a diagnosis, no matter how grim, can provide relief, validation, the chance to make plans, and have a discernible sense of future for individuals and… Read more »

Variant Filtration and Interpretation

         June 3, 2021

I learned about Batten disease from a childhood friend’s Facebook post. Over the course of a few months, her 8-year-old, Eva, the oldest of 4 daughters – Emily, Lucy, and Carly – was rapidly going blind. Baffled, doctors ran a genetic panel that returned a devastating result – the diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis or Batten disease. A broad… Read more »

Importing CNVs using VSPipeline

         June 2, 2021

VSPipeline is a command-line interface that will provide high throughput environments the ability to tap the full power of VarSeq’s algorithms and flexible project template system from any command-line context, including the existing bioinformatics pipeline. This feature is a great resource for analyzing large sample volumes as it automates importing and annotating your data, which can help streamline your analysis… Read more »

VS-CNV Updates in VarSeq v2.2.3

         May 18, 2021

Golden Helix has just released VarSeq v2.2.3. In this update, there are notable changes that can improve CNV calling capabilities covered in this webcast. The topics discussed included: Accounting for GC content Improvements to CNV quality flags Using target filtering Updates to the CNV sensitivity and precision settings This blog post will elaborate on these capabilities and demonstrate how they… Read more »

Featured in The Journal of Precision Medicine: Implementing the ACMG Guidelines for CNV in a Commercial Software Solution

         April 8, 2021

We are excited to share our latest publication with The Journal of Precision Medicine, “Implementing the ACMG Guidelines for CNV in a Commercial Software Solution”. “In 2020, ACMG in collaboration with the ClinGen working group developed a new set of guidelines for the clinical interpretation of CNVs. While theseguidelines provide a robust set of rules for interpreting intragenic deletions and… Read more »