Golden Helix Blog

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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Maximizing Structural Variant Detection with Soft Clip Visualization

Mar 27, 2023

Discover how soft clip visualization can help you identify structural variants in your research and improve the accuracy of your findings. Soft clipping is a common technique in sequence alignment used to remove bases from the ends of reads that do not align with the reference sequence. Removing these bases…

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Prenatal Genetic Screening with VarSeq Webinar Highlights

Mar 16, 2023

Explore the cutting-edge capabilities of VarSeq in prenatal genetic screening as we delve into real-life cases, expert analysis, and efficient strategies to quickly assess Whole Exome Sequencing (WES) samples for genetic abnormalities in our recent webinar. Thank you all to those who attended our VarSeq webinar covering prenatal genetic screening!…

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Decoding Complex Fusion Representations: A Deep Dive into VCF Breakend Notation and its Impact on Gene Analysis

Mar 14, 2023

Unlocking the intricacies of fusion representations is crucial for understanding the impact of complex genetic rearrangements on gene function and disease development. In the most recent release of VarSeq, we added support for the import of complex rearrangements from VCF files, which typically encode rearrangements using breakend notation. This powerful…

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VarSeq Customization and Automation with VSCode

Mar 9, 2023

Enhancing VarSeq Customization and Automation with Visual Studio Code: A Guide to Evaluation and Reporting Scripting Are you as excited as we are about the new automation and customization features we’ve been rolling out with VarSeq’s most recent release, VarSeq 2.3.0? Do your eyes light up at the prospect of…

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Revolutionizing Whole Exome Sequencing: VarSeq Powers Complex Analysis Data in Recent Publications!

Feb 23, 2023

Recent publications have highlighted how Golden Helix’s VarSeq suite of products is enabling researchers and clinicians to conduct complex whole exome sequencing studies, once considered ‘out of reach,’ with ease and precision, resulting in the discovery of new biomarkers and personalized treatment options. It is always with pride that we…

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Automated FASTQ to Reports with VarSeq Suite

Feb 16, 2023

Discover the Thrilling Automation Capabilities of VarSeq Suite for NGS Testing and Learn How We’re Tackling Contemporary Lab Challenges First off, I’d like to thank everyone who joined us for our February webcast on the automation capabilities of the VarSeq software suite through VSPipeline. For those of you who joined…

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Creating a BED File from RefSeq: A Comprehensive Guide for Accurate Data Analysis

Feb 14, 2023

Our FAS team has received a flurry of inquiries recently, asking how to run coverage statistics on their projects without a pre-defined BED file. We’re here to help! To analyze sample coverage statistics, you’ll need a BAM or CRAM file that displays the read depth coverage for your samples. But…

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Unlocking Clinical Evidence: A Deep Dive into the Supporting Data Sources of VSClinical AMP Workflow

Feb 7, 2023

Discover the innovative clinical evidence search of the VSClinical AMP workflow, where patient biomarkers and tumor types are matched to the most relevant data from top sources like CIViC, DrugBank, and Clinical Trials. One of the core features of the VSClinical AMP interpretation workflow is the ability to search third-party…

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A New Comprehensive Template for Somatic Variant Annotation and Filtering in VarSeq

Feb 2, 2023

Revolutionize Your Somatic Variant Analysis with Our Cutting-Edge Template for Annotation and Filtering in VarSeq Golden Helix is excited to share our new Comprehensive Cancer Template for somatic variant annotation and filtering, along with the latest version of our software VarSeq 2.3.0! Our latest VarSeq update was specifically focused on…

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