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 Suite meets the requirements set by the European In Vitro Diagnostic Regulation (IVDR 2017/746), which governs the sale of in vitro diagnostic devices across the European Economic Area ..read more

The recent release of VarSeq 2.6.0 was filled with so many customer-requested features (for example, our long-awaited PGx workflow!) that some of our other new features have not yet had their time in the spotlight. For this blog, we are thrilled to announce that with the release of VarSeq 2.6.0, we have made WGS CNV calling more user-friendly than ever with several new upgrades! First off, our Binned CNV caller now has an edit button (Figure 1)! This feature will allow WGS workflows to easily access the Binned CNV caller settings for editing without having to delete and rerun the whole algorit ..read more

Precision tools are paramount for unlocking groundbreaking discoveries in the rapidly evolving field of genetic research. We have consistently paved the way with VarSeq—an all-encompassing solution tailored for genomics professionals. This sophisticated tool not only simplifies the complexity of genomic data but also amplifies its potential to drive significant advancements in medical research and personalized care. From aiding pediatric nephrology in Bulgaria to uncovering the genetic underpinnings of diseases like autism in Pakistan and Parkinson’s influenced by environmental factors, our cu ..read more

We are pleased to announce new training materials are available for multi-sample workflows in VarSeq! Specifically, we have a New Carrier Screening Tutorial and New Onboarding and Training guides for Carrier Screening Analysis in VarSeq, and Clinical Evaluation and Carrier Status Reporting in VSClinical. This blog gives an overview of what the user can expect to encounter when working through the carrier screening workflow and also provides direct access to the tutorials and training materials. The VarSeq VSClinical Carrier Screening Tutorial will cover a multi-sample analysis workflow with pa ..read more

Golden Helix is gearing up for PacBio PRISM 2024, where they will showcase their genomic solutions in multiple U.S. cities. The events will occur in Bethesda, Houston, San Francisco, and Boston throughout May. These events offer a prime opportunity to network with fellow researchers, gain valuable insights, and find inspiration for your lab work. Don’t miss out on the chance to connect with like-minded scientists and advance toward a brighter future in genomics. Dates & Locations: Bethesda – May 2 Houston – May 8 San Francisco – May 14 Boston – May 21 Explore how our innovative tools and ..read more

Variant curation is one of the most important aspects of a next-generation sequencing workflow. The routine application of previously rendered interpretations, paired with the ability to take into account evolving knowledge bases, allows clinical practices to rapidly and accurately provide life-saving results to patients. Hence, assessment catalogs, versatile databases that store variant interpretations for rapid access, form one of the pillars of NGS analysis with Golden Helix’s software stack. True to our core values, automation in tandem with transparent workflows plays a key role here. Va ..read more

In this blog post, we will explore the nuances of variant calling and import in the context of VSPGx. We will discuss the importance of integrating must-call variant definitions into the calling processes and provide guidance on incorporating copy number variants (CNVs) and structural variations (SVs) into your PGx analysis workflow. Must Call Variant Files To ensure the optimal performance of the variant detection and recommendation capabilities provided by VSPGx, it is crucial to configure the variant calling process during the secondary analysis step to detect all variants across the full ..read more

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