Search results for “VSWarehouse”

Customized Reports in VSClinical with New Output Types

Sep 23, 2021

Golden Helix VSClinical provides a guided workflow interface for following the ACMG and AMP guidelines to evaluate variants and CNVs for NGS tests, including CNV analysis. The output of this work is most often a lab-specific clinical report. Since it was introduced, we have provided a powerful Word-based templating system…

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ESHG 2021 Corporate Satellite Talks

Aug 26, 2021

Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun,…

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Golden Helix’s Next-Gen Sequencing Data Analysis Solutions Explained

Jun 22, 2021

Next-gen sequencing (NGS) comprises many sophisticated steps that are often compressed into three major sections: library prep, sequencing, and data analysis. Understanding each stage of NGS data analysis is essential for building efficient clinical workflows. Obviously, the goal is to simplify each of these steps, but more often than not,…

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Webcast Recap: VSClinical: A Complete Clinical Workflow Solution

Jan 15, 2021

Didn’t catch the webcast live? No worries! We cover ‘VSClinical: A Complete Clinical Workflow Solution’ Q&A’s in this blog post. The webcast, ‘VSClinical: A Complete Clinical Workflow Solution’ demonstrated how solutions provided by Golden Helix can be implemented to cover all requirements of a clinical workspace. Specifically, this webcast focused…

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Webcast Recap: Exploring New Features and Clinical Reports in the ACMG Guideline Workflow

Dec 3, 2020

Webcast Recap In the recent webcast “Exploring New Features and Clinical Reports in the ACMG Guideline Workflow”, Gabe and I took viewers through an evaluation with CNVs and SNVs according to the ACMG Guidelines where we generated and customized a clinical report. Along the way, we highlighted many new features…

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Example De Novo CNV in Cardiomyopathy Panel

Oct 20, 2020

In a recent webcast, users were exposed to some new features upcoming in the next release of VarSeq. In this update, we will use an example de Novo CNV in a cardiomyopathy panel in VarSeq. There is a long list of new tools and polishes to the software but one…

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Variant Analysis of Bechet Disease Using VSClinical

Sep 15, 2020

VSClinical is a feature to evaluate clinically relevant variants according to the ACMG or AMP guidelines. This feature can also be used to identify if a variant has been observed previously or evaluate a manually inserted variant. Take, for example, the scenario where a colleague is interested to see if…

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Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VSClinical’s Assessment Catalog

Aug 14, 2020

It doesn’t take much effort to find articles discussing the value of Next-Generation Sequencing (NGS). There is a consistent tone amongst authors that implementing NGS pipelines are critical for clinical efficiency in both hereditary disorders and somatic. However, NGS strategies do not come without their own challenges. Challenges include not…

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Auto-Updating Template Sources

May 21, 2020

In VarSeq 2.2.1, you can enable auto-updating for template annotation sources, ensuring they always reflect the latest available version. Previously, VarSeq templates were frozen in time. Now, each new project created from a template would use the same source that was used when the template was created. When you save…

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VarSeq 2.2.1 Release Notes

Apr 10, 2020

VarSeq 2.2.1 was released on April 1st and features an upgraded gene annotation capability with new RefSeq genes tracks and an AMP workflow addition: the Drugs and Trials tab. The new RefSeq human genome genes tracks contain updated gene names and the recognition of any MANE (Matched Annotation from NCBI…

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Webcast Recap: Using VarSeq Templates to Advance and Customize Variant Analysis

Apr 9, 2020

Thank you to everyone who joined me for yesterday’s webcast, Using VarSeq Templates to Advance and Customize Variant Analysis, I hope you all enjoyed it. If you missed the live event and are interested in knowing what we talked about, good news, you can watch the recorded version right here!…

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Powerful Cohort Analysis with VarSeq’s Count Alleles Algorithm

Feb 25, 2020

Although VarSeq is intentionally designed to be a clinical NGS analysis pipeline tool able to run a handful or even single samples through, we have many users who run large cohort style studies with the tool as well. One common use is to compare case/control data to isolate variants shared…

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Cyber Security Strategies for NGS Testing Labs: Part IV

Feb 13, 2020

Golden Helix is in a unique position to provide a secure on-premise analysis solution. This capability is based on two enablers. First, we build our software solutions from scratch and from the ground-up with the assumption that it should run on any operating system and potentially behind firewalls or even without internet access. Second, we provide…

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Customizing Your VSClinical Workflow: Part I

Jan 14, 2020

Clinical labs offer a unique and sophisticated product that is performed repeatedly with high standards of quality. VarSeq was developed to provide labs with the customization required for clinical genetic tests in a repeatable workflow. On top of this, VSClinical offers additional parameters and choices that can be made when…

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Golden Helix’s End-to-End Architecture for Clinical Testing Labs

Dec 19, 2019

As clinical genetic tests have been adopted as a critical enabler of precision medicine, the number of tests offered by clinical labs and the volume of tested patients has grown by orders of magnitude in the past five years. The Gene Testing Registry, managed by the NIH, documented a rise…

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Reflecting on AMP 2019

Nov 14, 2019

Our team has returned from the annual meeting of the Association of Molecular Pathology (AMP 2019), and, as always, I am grateful for all the wonderful experiences we are bringing back with us. The plenary sessions and talks were bountiful, and we were very impressed with the well-organized exhibition. Hats…

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VarSeq 2.2.0 Release Notes

Oct 23, 2019

VarSeq 2.2.0 was released today and this a stable release full of upgrades and polishes. Some of the newer features include the ability to store and include AMP Cancer assessment catalogs on VSWarehouse, quicker accessibility to common annotations plotted in GenomeBrowse, and the addition of all of our standard templates…

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Automating & Standardizing Your NGS Workflow: Part IV

Sep 10, 2019

We have covered a lot of ground in this Automating & Standardizing Your Workflows blog series. First, we saw how to perform secondary analysis with Sentieon to generate the necessary VCF and BAM files for tertiary analysis in Part I. The implementation of VSPipeline allowed for rapid import and project…

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Automating & Standardizing Your NGS Workflow: Part III

Sep 3, 2019

In our last part of this series, we showed how to run a pre-built workflow template via VSPipeline to automatically import and filter sample variants to streamline the search for clinically relevant variants. Now, we can deep-dive into our filtered, pathogenic variants to fully understand and capture their final classification…

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Automating & Standardizing Your NGS Workflow

Jul 30, 2019

As our regular customers may know, we write our blogs to provide relevant content to any NGS-based analysis with VarSeq. Our goal here at Golden Helix is to provide top quality software and guidance on how to use the software efficiently to perform variant analysis. However, this blog series will…

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