Golden Helix Blog

ESHG 2023 Insights

Jun 22, 2023

We had a great time in Glasgow for ESHG 2023, connecting with many current customers and prospective customers at our booth. The in-depth conversations were engaging and offered beneficial insights for our team and the attendees. Thank you all for visiting our booth for a demo as well as attending…

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Using Evaluation Scripts to Automatically Incorporate Secondary Evidence into Your AMP Workflow

Jun 15, 2023

The AMP guidelines workflow in VSClinical provides a user-friendly tool for the interpretation of somatic biomarkers across the entire spectrum of genomic variation. One of the most useful features of this workflow is its ability to streamline the evaluation of clinical evidence for a somatic biomarker using the AMP Tier…

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We are Headed to AMP Europe 2023!

Jun 12, 2023

Discover the Latest Developments in Variant Classification and Interpretation Tools at Golden Helix’s Booth at AMP Europe 2023 in Milan, Italy We are thrilled to announce that Golden Helix will be participating in the AMP Europe 2023 conference in Milan! We are eagerly looking forward to connecting with leading healthcare…

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We are Headed to ESHG 2023!

Jun 6, 2023

Explore the Newest Developments in Variant Classification and Interpretation Tools at Golden Helix’s Booth at ESHG 2023 We are excited to announce that Golden Helix will be attending the ESHG 2023 conference in Glasgow! We can’t wait to connect with leading healthcare professionals and researchers in the field of genetics at…

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Empowering Genomic Research: Unveiling VarSeq’s Impact in Recent Customer Publications

May 30, 2023

Welcome to our latest roundup of inspiring stories from the field of genomic research. We are thrilled to highlight the groundbreaking work of our customers who have been utilizing Golden Helix’s VarSeq software in their scientific endeavors. VarSeq, our innovative software solution for analyzing and visualizing variant data, has enabled…

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When Negative Findings are a Good Thing to Report: Leveraging VarSeq’s VSClinical AMP

May 25, 2023

Explore the importance of negative findings in genomic medicine through the lens of VarSeq’s VSClinical AMP. When analyzing a somatic sample in VarSeq, users have the option to report on several types of biomarkers with VSClinical AMP. In addition to your usual mutational biomarkers such as small variants, your copy…

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VarSeq 2.4.0 Has Been Released!

May 24, 2023

Greetings VarSeq users! VarSeq 2.4.0 has officially been released. VarSeq 2.4.0 is a significant release that focuses on enhancing the VSClinical ACMG workflow by introducing new features and noteworthy improvements. The major highlights of the release are: 1. Welcoming structural variant support to the VSClinical ACMG workflow 2. ACMG workflow…

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Webcast Recap: VarSeq 2.4.0: Structural Variants and Advanced Automation in VSClinical ACMG

May 22, 2023

In our recent webcast, we discussed the exciting new features of VarSeq 2.4.0 and the updated VSClinical interface. The discussion was centered around three main topics: In summary, VarSeq 2.4.0 uniquely supports the analysis of all variant types in the clinical interpretation workflow. By incorporating structural variants, enhancing automation, and…

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Transitioning to Broad-Scale Genomics: From Gene Panels to Whole Genome Sequencing

May 16, 2023

Explore the evolving landscape of genomic analysis, transitioning from targeted gene panels to whole genome sequencing. A recent trend with our customers has been to expand their workflows from small panel sequencing analyses to larger whole exome and genome sequencing analyses. The decreasing cost of sequencing has made this a…

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New Dog, Old Tricks: How to Bring Existing Variant Catalogs into VarSeq

May 15, 2023

Learn how VarSeq revolutionizes NGS workflows by enabling the integration of comprehensive internal databases, allowing bioinformaticians to create custom pipelines and maximize data analysis efficiency. Are you a current (or future) VarSeq user with a perfect, comprehensive, internal database you simply can’t part with and can’t replicate? Do you dream…

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Specifying Inputs for Reproducibility

May 11, 2023

A new VSPipeline command, set_data_folder_path, designed to bolster consistent input usage. By introducing this innovative command, we aim to empower users with improved data organization, flexibility, and standardization for their clinical cases and analyses. Embracing this command will not only support reproducibility but also ensure accountability, ultimately paving the way…

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Virtual Presentation at Bio-IT World Conference & Expo

May 9, 2023

The Bio-IT World Conference & Expo is a prestigious event showcasing the latest advancements in bioinformatics, computational biology, and data management. This year, the conference will be held in person and virtually, making it accessible to an even broader audience of researchers and bioinformatics enthusiasts. Andreas Scherer, President and CEO…

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ACMG STRIKES BACK

May 4, 2023

Use the force of evaluation scripts to automate and customize your VSClinical ACMG workflow in VarSeq 2.4.0. VarSeq 2.3.0 came packed with new features! Most notably, VarSeq variant analysis expanded to support the import and annotation of structural variant files, and the AMP cancer workflow in VSClinical gained new functionality…

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Exploring Genetic Frontiers: Customer Publications on VarSeq-Powered NGS Analysis in Pompe Disease and Developmental Dyslexia

Apr 27, 2023

These customer publications highlight our platform’s versatility in transforming NGS analysis for Late-Onset Pompe Disease and Developmental Dyslexia, leading to breakthroughs in comprehending complex genetic disorders and enabling novel treatment avenues. The versatility of our VarSeq platform is in full bloom this spring! Below are two examples of the scalability…

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Unraveling Structural Variants with VarSeq: A Comprehensive Workflow

Apr 18, 2023

Unlock the potential of VarSeq for efficient analysis of structural variants, providing robust annotation, filtering, and interpretation of intricate genetic variations. While the analysis of structural variants (SVs) is crucial for understanding the genetic basis of disease, the process of interpreting these variations can be a challenging and complex task.…

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Managing the Scope of Somatic Variants Reported in VSClinical

Apr 13, 2023

Discover the power of VSClinical’s Interpretation Match Behavior options for managing the scope of somatic variants in cancer reporting, enabling clinical teams to make informed treatment decisions. Multiple interpretations can apply to a single biomarker or tumor type. In some circumstances, a clinical team may only want to report the…

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WES Prenatal Workflow Examples: Exploring Duchenne Muscular Dystrophy, Gaucher Disease, and Fabry Disease in Genetic Screening

Apr 11, 2023

Discover powerful WES prenatal workflow examples showcasing the detection of Duchenne Muscular Dystrophy, Gaucher Disease, and Fabry Disease through advanced genetic screening techniques. Our recent Prenatal Genetic Screening with VarSeq webcast focused on using whole exome sequencing for prenatal genetic analysis. This webcast was a hit with our customers, who…

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Embracing the Future: Transitioning from Marketing Coordinator to Senior Marketing Manager at Golden Helix

Apr 10, 2023

Hello everyone! I’m Casey Fullem, and I am delighted to announce my recent promotion from Marketing Coordinator to Senior Marketing Manager at Golden Helix. Having had the privilege of contributing to the company’s growth over the past 1.5 years, I am eager to continue driving our success through the application…

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Unraveling the Genetics Behind Orofacial Clefts and Achromatopsia: Two Inspiring Studies Using Golden Helix Products

Mar 30, 2023

Explore how Golden Helix products aid groundbreaking studies on orofacial clefts and achromatopsia, showcasing their versatility and enhancing our understanding of these rare conditions. We are always humbled and thrilled to learn how Golden Helix products are being used in the arena of human genetic testing.  This month is no…

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ACMG 2023 Insights: Exploring Whole Exome Sequencing, Hereditary Cancer, and Prenatal Genetics

Mar 28, 2023

Our team at Golden Helix remains committed to advancing genomics and personalized medicine. We actively participate in industry conferences to stay current with the latest developments, such as the recent ACMG 2023 in Salt Lake City, Utah. This event facilitated valuable insights and discussions on several topics. Three key areas…

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