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 »
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 »
Clinical variant analysis experts with fully integrated workflows are often hesitant to upgrade or migrate their workspace, and rightly so. Similarly, those looking for new next-generation sequencing analysis software, whether for secondary (alignment and variant-calling) or tertiary (variant annotation, filtration, interpretation, and reporting) analysis, can be easily daunted by the breadth and depth of the process of setting up a… Read more »
Advancements in genomic analysis tools have significantly enhanced the identification and characterization of genetic variants associated with complex diseases. VarSeq, our flagship powerful variant annotation and filtration software, plays a crucial role in streamlining whole-exome sequencing (WES) data analysis, enabling researchers to detect pathogenic mutations efficiently. By utilizing VarSeq’s comprehensive annotation capabilities, researchers were able to filter and prioritize variants,… Read more »
We just wrapped up a dynamic and rewarding 2024. Hence, we want to take a moment to celebrate key milestones that have set the stage for our next chapter. This year, we pushed our solutions to new frontiers in clinical genomics. Here are the major accomplishments of last year: 1. Pharmacogenomics: releasing VSPGx entering into a new class of genetic… Read more »
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 »
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 »
Our VarSeq software continues to support cutting-edge research, enabling scientists worldwide to explore the depths of genetic variants with precision and accuracy. In this blog, we highlight recent publications that leveraged VarSeq for impactful discoveries in pharmacogenomics and familial cancer studies, showcasing the vital role of our tools in advancing personalized medicine and genetic research. Thai pharmacogenomics database −2 (TPGxD-2)… Read more »
Reporting on Cancer Biomarkers may seem like a daunting task, both in determining the scope of what a biomarker can encompass and which information to include. Biomarkers can come in the form of small variants (SNPs and INDELs), copy number variants, and structural variants. Biomarkers can also be sourced from external cancer kits in the form of a Genomic Signature,… Read more »
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 »
This month, we saw overwhelming customer publications with great use cases of VarSeq. Explore the publications below of our amazing customers continuing to pioneer precision medicine. The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing Clopidogrel is widely used worldwide as an antiplatelet therapy in patients with acute coronary disease. Genetic factors influence interindividual variability… Read more »
We continue to make significant contributions to the field of genomic analysis through collaborative studies, innovative software solutions, and robust data interpretation methodologies. This blog highlights four recent contributions from our team and collaborators, showcasing the breadth of our research and its implications for clinical practice. Analyzing Performance of Twist Bioscience Exome Enrichment with Spike-in CNV Backbone Panels at Various… Read more »
We are excited to participate in the European Human Genetics (ESHG) 2024 conference, where we will showcase our latest advancements in genetic analysis software. Attendees can visit Booth #428 to explore tools like VarSeq, VS-CNV, VSClinical, VSPipeline, and VSWarehouse. These solutions, aligned with ACMG and AMP Guidelines, offer powerful options for genomic analysis. Live demos will highlight our newest pharmacogenomics… Read more »
We are pleased to announce that Golden Helix has received CE mark approval for its genetic analysis platform VarSeq Suite. This significant regulatory milestone paves the way for the expansion of our advanced genetic analytics products to the European market, ensuring compliance with the European Union’s health, safety, and environmental protection standards. Receiving the CE mark certifies that our VarSeq… Read more »
