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The Golden Helix Blog OUR 2 SNPS… Home Authors Golden Helix Site Search Search Home Authors Golden Helix Site Read the latest news and stories from the Golden Helix team, covering how-tos, announcements, product releases, and updates. Secured CE Mark for the European Union May 7, 2024 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 » News, events,announcements Andreas Scherer , Golden Helix , VarSeq CNV Specific Updates to VarSeq 2.6.0 May 6, 2024 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… Read more » Clinical genetics , Software Update CNV , Golden Helix , VarSeq , WGS Powering Precision Medicine: Golden Helix Customers Innovate with VarSeq May 2, 2024 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… Read more » Customer success Customer Publications , Golden Helix , VarSeq Couple Carrier Screening Tutorial and Onboarding Training Now Available! April 30, 2024 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… Read more » How to's and advanced workflows Golden Helix , VarSeq , VSClinical Join Golden Helix at PacBio PRISM 2024 April 25, 2024 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… Read more » News, events,announcements Conferences , events , Golden Helix , PacBio , prism Evaluation Script Adding Variants to Catalog April 23, 2024 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… Read more » Bioinformatic support Golden Helix , VarSeq Variant Calling and CNV Import in PGx Genes using VSPGx April 18, 2024 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… Read more » Learn more about GHI software CNV , Golden Helix , pharmacogenetics , Pharmacogenomics , VarSeq , vspgx VarSeq PGx inputs: Converting Microarray data to VCF format April 3, 2024 The release of VarSeq version 2.6.0 provides many new features. Most notably is our support for tertiary analysis of Pharmacogenomic (PGx) data. VarSeq not only calls the necessary gene diplotypes for your PGx panels but also handles large batches of samples from the called diplotypes to final report on drug recommendations. Here is a link to a recent webcast demonstrating… Read more » Software Update 2.6.0 , Golden Helix , pgx , pharma , pharmacogenetics , Pharmacogenomics , VarSeq , varseq 2.6.0 , vspgx Including QC Metrics in Report Templates April 2, 2024 Our customers often ask if they can include quality control metrics in their final reports. While which metrics you actually need to report may be unique to your lab, there are a variety of metrics that we can immediately render into a report, and even more that can be rendered with a few customizations. For help with any report modifications,… Read more » Best practices in genetic analysis custom report templates , Custom Reports , metrics , qc , quality control , quality metrics , report templates , reporting , Reports , VarSeq Computed Fields in VarSeq: The ultimate customization tool April 2, 2024 Bioinformatic freedom is core to the user experience with Golden Helix software, a topic with which you will be well-versed if you’ve kept up on our recent blogs. We are constantly endeavoring to provide our users with powerful tools to tackle complex and impactful next-generation sequencing (NGS) workflows while maintaining transparency and the ability to customize and augment each component… Read more » Bioinformatic support , Clinical genetics , Customer success compute fields , Customize , Golden Helix , VarSeq Advancing Genetic Research: The Role of VarSeq and VS-CNV in Breakthrough Discoveries March 31, 2024 In the rapidly evolving field of genomics, innovative technologies, and methodologies are constantly being developed to enhance our understanding and diagnosis of genetic disorders. Golden Helix’s VarSeq and VS-CNV software platforms stand at the forefront of this revolution, offering powerful tools for genetic data analysis and interpretation. This blog highlights recent research endeavors where these tools have been instrumental. From… Read more » Customer success CNV , Customer Publications , Golden Helix , twist , twist biosciences , VarSeq , VS-CNV VarSeq 2.6.0 is Released! March 26, 2024 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… Read more » Big picture , Software Update 2.6.0 , Golden Helix , pgx , Pharmacogenomics , software release , software update , VarSeq Golden Helix VarSeq in Action – P715: Analyzing performance of the Twist exome with CNV backbone at various probe densities leveraging Golden Helix VS-CNV March 22, 2024 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… Read more » Big picture CNV , Exome , Golden Helix , twist , twist exome , VarSeq From the Inbox: Leveraging the Transparency and Flexibility of VSClinical for ACMG Guidelines March 19, 2024 When a variant shows up as rare in the general healthy” population, as indicated by low frequency or absence in...