Golden Helix Blog

Advancing Precision Medicine: A Spotlight on Golden Helix’s VarSeq in Genomic Research and Clinical Applications

Aug 1, 2023

The field of genomic research and precision medicine is rapidly evolving, bringing forth innovative diagnostic and treatment approaches. The cutting-edge techniques and technologies discussed in the following papers provide insight into how whole-exome sequencing (WES), whole-genome sequencing (WGS), and deep computational analysis are reshaping healthcare. Our spotlight is on recent…

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Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer

Jul 25, 2023

While the analysis of gene fusions is crucial for understanding the genetic basis of cancer, the process of interpreting these mutations can be challenging. One important component of fusion interpretation is the identification of relevant publications. To aid researchers in the search for publications related to specific gene fusions, Felix…

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Optimizing the Capture of Tier II Evidence in VSClinical AMP

Jul 18, 2023

VarSeq 2.3.0 unleashed a whole new way to select, process, analyze, and report cancer variants through complete workflow automation, application of evaluation scripts, and enhanced annotation. Single nucleotide variants, copy number variants, structural variants, and genomic signatures could be added to a single patient evaluation, and Golden Helix CancerKB came…

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Importing External Assessment Catalogs for use in VSClinical ACMG and VSClinical AMP

Jul 13, 2023

When doing clinical variant analysis, it is often essential to keep track of the variants that are encountered in each sample, their pathogenic or oncogenic classifications, which individual created or saved an interpretation, and when. For this purpose, VarSeq prompts VSClinical users to create default assessment catalogs in which to…

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2023 Innovation Awards Winner: Dr. Muthukumaran

Jul 6, 2023

We would like to extend our heartfelt thanks to everyone who participated in our 2023 Innovation Awards Competition. Each year, we are profoundly inspired by the innovative applications and groundbreaking research conducted using Golden Helix software globally. With immense excitement, we are thrilled to announce this year’s winner! Dr. Muthukumaran…

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Moving the AppData Folder – A Look At Sharing Assessment Catalogs

Jul 3, 2023

Discover how to enhance collaboration in VSClinical by sharing variant scores and assessment catalogs through the strategic relocation of the AppData folder. A subtle but powerful utility of VSClinical concerns the ability to share variant scores between users on the same account. What I mean by that is, leveraging the…

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Unlocking Genetic Mysteries: Celebrating Customer Innovations with VarSeq Software

Jun 27, 2023

At Golden Helix, our community of customers and researchers is at the core of our commitment to advancing genomic research and precision medicine. We are thrilled to highlight some recent customer innovations that have made innovative use of our VarSeq software in their research. These studies, which span across diverse…

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Data Viewing with VarSeq: Plotting Tracks!

Jun 26, 2023

In recent weeks, GenomeBrowse capabilities have had a sudden resurgence of interest among our customers. To support this, the FAS team wanted to share with you several under-utilized GenomeBrowse plotting tricks. First, let’s cover plotting a BED file for easy track viewing. The first step is launching a GenomeBrowse window…

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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, forming a key part of any robust somatic analysis pipeline. One of the most useful features of this workflow is its ability to streamline the evaluation of…

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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, which guides clinicians through structured variant classification for each finding. In addition to…

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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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