Wednesday, March 2nd 12:00 pm EST Clinical labs must have the ability to go from a collection of samples and associated variants to a professional report documenting a short list of clinically relevant variants. Cancer Gene Panels are a common clinical application for genetic tests. In this webcast we will show how VarSeq and VSReports can be used to go… Read more »
Last week we conducted a webcast on “Cancer Gene Panels”. We had some excellent questions which we answered during the webcast and a few more that we didn’t get to in the allotted time. Please find answers to those questions here: 1. Are Cancer Gene Panels just another stepping stone on the way to whole exome/genome analysis? Cancer gene panels answer… Read more »
In 1914 the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time his ideas were equally revolutionary as they were highly contested. Fast forward. More than hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells. It can help us to understand mutations associated with cancer development and… Read more »
Dr. Folefac Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in Vancouver, BC, Canada. He utilizes GWAS studies to identify single-nucleotide polymorphisms (SNPs) that might be associated with serious adverse drug reactions (ADRs) in cancer therapeutics. The field of pharmacogenomics—how one’s genetic makeup affects drug response—has grown exponentially… Read more »
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 research. (All abstracts below.) First, in the pharma world, congrats… Read more »
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 study locating new CNVs in schizophrenia. (Abstract below) Skipping over… Read more »
We’re thrilled to announce that VarSeq 3.0.0 is right around the corner, and with it comes one of the most exciting updates yet: a complete reimagining of the Assessment Catalogs system. Whether you’re curating clinically relevant variants, tracking tumor-specific calls, or building rich catalogs of sample information, the new system is designed to be more powerful, more versatile, and easier… Read more »
Today, we announced a strategic partnership with Genomenon to integrate its Mastermind Genomic Intelligence Platform and Cancer Knowledgebase (CKB) into the Golden Helix software suite. This collaboration combines two industry-leading platforms to enhance genomic interpretation and deliver high-confidence, literature-backed insights to clinical laboratories worldwide. Through this integration, Golden Helix customers gain seamless access to Genomenon’s expertly curated germline and somatic… Read more »
Golden Helix is excited to welcome a group of talented individuals who bring a wide range of backgrounds, experiences, and professional skills to the table. Each of our new team members adds their unique expertise and perspective, strengthening our ability to serve the genomics and precision medicine community. With that, we’re pleased to introduce: Sam Morreall, Area Director of Sales… Read more »
In our recent webcast, we explored how VSWarehouse 3 streamlines and automates pharmacogenomics workflows, transforming raw NGS data into actionable clinical reports. This blog post recaps the webcast, breaking down each component of the standard pharmacogenomics workflows to demonstrate how laboratories can achieve end-to-end automation in pharmacogenomic (PGx) testing. Breaking Down the Pharmacogenomics Workflow VSWarehouse 3 provides users with an… Read more »
New to VarSeq 3 is support for breakend catalogs. Breakends represent the junction points of structural variants, which include complex genomic rearrangements like translocations, inversions, and large deletions that play crucial roles in cancer genomics and rare disease analysis. These catalogs are unique as they must save two genomic positions for each record, representing both sides of the structural variant… Read more »
As comprehensive genomic profiling (CGP) becomes the standard in cancer variant analysis, the scale and complexity of next-generation sequencing (NGS) data continue to grow. It is now commonplace to report on small variants, larger amplifications and deletions, various complex structural variants (fusions or breakends) as well as genomic signatures like microsatellite instability (MSI) and tumor mutation burden (TMB). Interpreting this… Read more »
Golden Helix is thrilled to announce our participation at the European Society of Human Genetics (ESHG) 2025, where we will be in attendance from May 24–26 in Milan, Italy. Visit us at Booth #510 to explore how our cutting-edge solutions in NGS analysis, cancer diagnostics, and clinical genomics are accelerating precision medicine around the globe. Live Software Demos: Experience Innovation… Read more »
The VarSeq platform has been on the market for over a decade and has established itself as robust and powerful clinical-grade bioinformatics software. Its usage spans many types of analysis, including pharmacogenomics, rare disease, hereditary cancer, somatic, carrier risk, and trio/family. Fundamentally, users have the freedom to build any workflow they need, which is a significant value proposition compared to… Read more »
ClinVar is a global, publicly accessible database maintained by the National Center for Biotechnology Information (NCBI) that archives interpretations of human genetic variants and their clinical relevance. ClinVar consists of contributions from clinical labs, expert panels, and research groups, and serves as a community-powered knowledge base that is foundational for clinical genetics. This powerful database is expectedly one of the… Read more »
NGS Software is Bridging the Gap Between Discovery and Practical Application Researchers, clinicians, and scientists need cutting-edge solutions to better understand the complexities of human genetics. By delivering high-quality analysis tools and advancing the interpretation of genomic data, Golden Helix bridges the gap between discovery and practical application. Our NGS technologies play a critical role in accelerating genetic insights, supporting… Read more »
Thank you to everyone who joined our recent webcast, “Powering Genomic Workflows with Upgraded Catalogs in VSWarehouse and VarSeq 3,” presented by Gabe Rudy on April 23rd, 2025. We appreciate the engagement and interest in the latest advancements to our platform. For those who missed it or need a recap, the session focused on the pivotal role Catalogs play as… Read more »
Genomic research is advancing at an unprecedented pace, and with it comes the need for powerful tools that can turn raw sequencing data into meaningful insights. VarSeq, our variant analysis and interpretation platform, has become a go-to solution for researchers tackling complex genetic questions. Whether in rare disease diagnostics, population genetics, cancer research, or infectious disease studies, VarSeq provides the… Read more »
Join Golden Helix at ACMG 2025 for Exclusive Demos and Innovations Explore Our Latest Genomic Tools at Booth #722 Golden Helix is excited to announce our participation in the 2025 ACMG Annual Clinical Genetics Meeting from March 19 – 21 in Los Angeles, California. This premier event gathers professionals from the medical genetics community worldwide for four days of education,… Read more »
Golden Helix, a global leader in bioinformatics solutions for Next-Generation Sequencing (NGS) and precision medicine, is proud to announce a multi-year agreement with all Danish healthcare regions. The agreement aims to enhance the genomic capabilities of multiple laboratories within the regions, supporting critical advancements in cancer and hereditary disease diagnostics. In a unified effort across Denmark’s healthcare regions, the laboratories… Read more »
