We have been building up to the final release of VarSeq 2.6.0 for a couple of weeks now, but we are excited to announce that 2.6.0 is officially available! VarSeq 2.6.0 is an exciting release as this version of VarSeq features the introduction of VSPGx, offering a complete pharmacogenomic workflow, including data import, variant analysis, and report generation. We have already generated TONS of helpful resources for learning about VSPGx and how to build a workflow that suits your lab. Check out these amazing resources below! VSPGx Product Page Webcast Introducing VSPGx: Pharmacogenomics Testi ..read more

When a variant shows up as rare in the general “healthy” population, as indicated by low frequency or absence in one or more commonly referenced population catalogs such as GnomAD Exomes or 1000 Genomes, this indicates by proxy that the variant may be pathogenic. However, several factors determine the frequency threshold below which a variant is considered rare enough to be pathogenic when going by the ACMG guidelines. One has to take into account factors such as variable mode of inheritance based on gene-disease associations, the zygosity, the matter of penetrance, and of course, what is gene ..read more

Recently, at ACMG 2024, we unveiled a collaborative research project with Twist Biosciences. By utilizing Twist Bioscience enhanced Exome 2.0 Plus Comprehensive Exome Spike-In capture panel with added backbone probes, we developed a multi-modal CNV caller designed specifically for target-capture NGS data to detect single-exon to whole-chromosome aneuploid CNV events. We are proud to say that from Golden Helix, Andreas Scherer, President and CEO, Gabe Rudy, VP of Product and Engineering, and Nathan Fortier, Director of Research, all contributed to this recent paper. Introduction Clinical Whole ..read more

Thanks to all of you who were able to attend the live webcast introducing the newest genomic analysis tool within VarSeq, VSPGx! For those of you who could not make it to the live presentation and demonstration, I will fill you in on what we covered. If you would like to watch or re-watch the webcast, you can access the it here! Nathan Fortier kicked off the webcast by introducing pharmacogenomics as a discipline and how pharmacogenomic testing can be used to predict how an individual will respond to a given drug, determine appropriate dosing, and assess whether an individual is at risk of tox ..read more

Leading the Genomic Revolution with VarSeq Suite, Revolutionizing Precision Medicine, and Envisioning a Path for Healthier Tomorrow: Golden Helix Inc We recently were awarded by CIO Bulletin 2024, a winner of their Innovation Excellence Awards. Due to our groundbreaking contributions to the field of precision medicine, this recognition is greatly appreciated. Here’s a summary of the key highlights: Introduction to Golden Helix Inc.: The article introduces Golden Helix Inc. as a pioneering company in the realm of precision medicine. With its innovative technologies and solutions, Golden Helix ..read more

There are many ways to optimize an individual workflow, from increasing the granularity of a filter chain to automating certain multi-stepped tasks. Although the best way to optimize an individual workflow is to book a session with our FAS team to talk about your unique use case, we wanted to highlight five ways a workflow can be optimized across most use cases. Text Manifest One of the most useful shortcuts when processing large amounts of samples is the ability to import sample and patient-level information with the use of a text manifest. We covered this topic extensively here, but know tha ..read more

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 pharmacology. Our modern medical landscape is on the cusp of a revolution, moving away from a one-size-fits-all approach, to a more personalized method of treatment where medication and dosage are tailo ..read more

VSPGx is a pharmacogenomics interpretation software based on CPIC recommendations. The field of pharmacogenetics bridges genetics and pharmacology, with the aim of optimizing drug therapies for individual patients based on their unique genetic makeup. It has the potential to revolutionize healthcare by improving drug efficacy, reducing adverse reactions, and advancing the concept of personalized medicine moving away from a one size fits all approach. “VSPGx has been demanded by our customers world-wide. Golden Helix partnered with the NIH, who awarded us with a phase 1 SBIR (Award 1R43HG013456 ..read more

Join us for an enlightening and engaging Golden Helix User Meeting at ACMG 2024, where we dive deep into the latest advancements and updates from Golden Helix. This is your chance to connect with fellow professionals, explore cutting-edge genetic analysis tools, and get firsthand insights into how our solutions are evolving to meet the future of genomic analysis. This is an opportunity to ask questions on the fly and engage directly with the Golden Helix team. Please note that there is limited availability for this event. Date & Time: March 12th, 8:00 am – 11:30 pm Location: &nb ..read more

Join Golden Helix at the American College of Medical Genetics and Genomics (ACMG) 2024 conference and discover the latest advances in genetic research. This premier event brings together leading researchers, clinicians, and industry experts to share their insights on cutting-edge topics in medical genetics. Stop by our booth for a live demo of our software, learn about the latest features, and discuss how our tools can enhance your genetic research. Plus, by visiting our booth for a demo, you’ll receive one of our famous t-shirts. Don’t miss this chance to discover the latest in genetic analy ..read more