Search results for “VSPipeline”

Sample Catalogs in VSWarehouse 3

Apr 17, 2025

Creating and managing sample manifest files in VarSeq has traditionally been a time-consuming process that demands precision and attention to detail. The upcoming VSWarehouse 3 release will feature the ability to use catalogs to save and load sample fields in VarSeq projects. Not only will this allow for easy population…

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Webcast Covering Dynamic and Flexible Fullstack NGS Pipelines in VSWarehouse 3

Mar 20, 2025

A special thank you to everyone who was able to attend our most recent webcast, Dynamic and Flexible Fullstack NGS Pipelines in VSWarehouse 3. We covered a lot of ground in this session and wanted to follow up with you about our lingering Q&A questions about the functionality of VSWarehouse…

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VarSeq PGx: Flexible import of array and NGS data

Feb 13, 2025

Next-generation sequencing (NGS) embodies the process of elucidating the signal from the noise. Given the genetic data of a patient, ranging from a targeted gene panel to a whole genome, a healthcare provider’s onus is to glean as much actionable information from the detected variants. As the field of NGS…

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VSWarehouse 3 as an Integration Platform

Dec 5, 2024

Following up on our recent post about VSWarehouse 3’s Bring Your Own Cloud capabilities, we wanted to dive deeper into one of its most powerful features: our comprehensive workflow system. This system is designed to streamline genomic analysis pipelines while providing flexible integration with various cloud genomics providers. Understanding VSWarehouse…

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Efficient Quality Control tools for an automated VarSeq pipeline

Oct 29, 2024

Optimizing sample throughput while maintaining quality control is, arguably, the crux of any profitable lab performing a high volume of analysis. We’ve discussed in great detail the flexibility of VSPipeline, our command line automation tool, as well as our full-stack FASTQ to report automation capabilities, and today I’d like to…

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Golden Helix at ESHG 2024 in Berlin, Germany!

May 21, 2024

We are excited to participate in the European Human Genetics (ESHG) 2024 conference, where we will showcase our latest advancements in genetic analysis software. Attendees can visit Booth #428 to explore tools like VarSeq, VS-CNV, VSClinical, VSPipeline, and VSWarehouse. These solutions, aligned with ACMG and AMP Guidelines, offer powerful options…

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Evaluation Script Adding Variants to Catalog

Apr 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…

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Five Ways to Optimize Workflows with VarSeq

Mar 7, 2024

There are many ways to optimize an individual workflow, from increasing the granularity of a filter chain to automating certain multi-stepped tasks. Although the best way to optimize an individual workflow is to book a session with our FAS team to talk about your unique use case, we wanted to…

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Exploring VarSeq 2.5.0: Innovations in Somatic Analysis and Cancer Research

Dec 5, 2023

Thank you to all our viewers who attended our webcast last week on VarSeq 2.5.0: VSClinical AMP Workflow from the User Perspective. Overall, this webcast highlighted the versatility of VarSeq, demonstrating both a Tumor-Normal somatic workflow and a singleton somatic analysis. In addition, we got to see the utility of…

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We are Heading to ASHG 2023!

Oct 20, 2023

Explore the Newest Developments in Variant Classification and Interpretation Tools at Booth 506 at ASHG 2023 Join Golden Helix at the American Society of Human Genetics (ASHG) 2023 conference and delve into the latest advancements in genetic research. This esteemed event brings together distinguished researchers, clinicians, and industry frontrunners to…

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Using Text Manifests to Load in Sample Patient Information

Aug 3, 2023

The ability to import patient-level information into VarSeq and VSClinical can not only save time while evaluating a sample but can be a critical step in automating project creation through VSPipeline. Here we will review how to construct a basic text manifest and how to apply that manifest to a…

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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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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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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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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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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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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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VarSeq 2.3.0: A Comprehensive Look at the Revolutionary Cancer Genomic Profiling Solution’s New Features and Advancements

Jan 18, 2023

Discover the latest advancements in cancer genomic profiling with the release of VarSeq 2.3.0 We are very excited to announce the release of VarSeq 2.3.0! This release was one of the largest VarSeq releases yet, as it includes a large refactor to the VSClinical AMP cancer module. A primary motivation…

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4 Essential Support Resources for Golden Helix Software Users

Jan 5, 2023

Golden Helix provides extensive resources to help our users who are just getting started and address any issues they may encounter as they become more familiar with our software. Our resources are constantly updated and are tailored to the needs of our users. If you’re facing a problem, it’s likely…

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