About Golden Helix

The Breakend Catalog Format for VarSeq 3

Jul 8, 2025

New to VarSeq 3 is support for breakend catalogs. Breakends represent the junction points of structural variants, which include complex genomic rearrangements like translocations, inversions, and large deletions that play crucial roles in cancer genomics and rare disease analysis. These catalogs are unique as they must save two genomic positions…

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June 2025 Customer Publications: Variant Classifications for Cancer & HHT

Jun 27, 2025

This month, our team at Golden Helix is proud to highlight a series of standout customer publications demonstrating the real-world impact of next-generation sequencing and variant analysis. Featured articles from June 2025 showcase the power of the VarSeq platform in supporting high-quality research across hereditary and somatic disease. From integrating…

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Deploying VSWarehouse 3 With Ease

Jun 26, 2025

Managing genomic workflows at scale has always required a bit of IT expertise. The reality is, Next Generation Sequencing data is quite large and requires substantial compute resources to process. Clinical labs must carefully plan how to scale their IT resources to match their genomic testing workloads. Some labs prefer…

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Visualizing Base Modifications in Long-Read Alignment Files

Jun 19, 2025

We’re excited to announce a powerful new feature in GenomeBrowse that enhances our support for visualizing long-read sequencing data: the ability to color reads by base modifications, such as DNA methylation, directly from BAM and CRAM alignment files. Long-read sequencing technologies like those from PacBio and Oxford Nanopore have unlocked…

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The CoLoRS Database: Enhancing Your Long-Read Sequencing Analysis

Jun 17, 2025

Here at Golden Helix, we continue to develop top-quality bioinformatic software to support high-throughput clinical next-gen sequencing pipelines, including long-read whole-genome-sequencing (WGS) workflows. WGS long-read technologies like PacBio HiFi and Oxford Nanopore offer improved variant calling for SNVs, Indels, structural variants, tandem repeats and repeat expansions, and epigenetic modifications. Each…

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Evaluation Scripts for Importing Structural Variant Calls

Jun 10, 2025

As comprehensive genomic profiling (CGP) becomes the standard in cancer variant analysis, the scale and complexity of next-generation sequencing (NGS) data continue to grow. It is now commonplace to report on small variants, larger amplifications and deletions, various complex structural variants (fusions or breakends) as well as genomic signatures like…

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Reduce, Reuse, Recycle: Creating Automatable Workflow Templates with VarSeq

Jun 10, 2025

Next-generation sequencing (NGS) data analysis often involves multiple steps from variant annotation, filtering, interpretation, visualization, and report generation. Repeating these steps manually for each new project can be error-prone and inefficient. In clinical bioinformatics and regulated environments, we recognize that consistency is critical. That’s why VarSeq offers robust support for…

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Golden Helix’s 2025 T-Shirt Design Competition 

Jun 10, 2025

Calling all creatives, scientists, and fans of clever wordplay: Golden Helix is thrilled to kick-off the 2025 T-Shirt Design Competition! As we gear up for another exciting conference season, we want to see your witty ideas, genetics puns, and eye-catching graphics.   This year’s winning designs will be unveiled at the…

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Visualization With IGV

Jun 5, 2025

Modern genomics workflows often require multiple specialized tools working in concert. In the upcoming VarSeq release, we are excited to announce the option for tighter integration with IGV. Genomics researchers and clinicians are well-versed in using IGV as a visualization tool for their genomic data. This new option will allow…

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Enhancing Long-Read Alignment Visualization in GenomeBrowse

Jun 3, 2025

Long-read sequencing technologies have opened new doors in genomics research, enabling more comprehensive analysis of structural variants, phasing, and complex genomic regions. To support these powerful applications, we’ve introduced several new features to GenomeBrowse that specifically enhance the visualization of long-read alignment files. These improvements are designed to help our…

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Importing External PGx Calls for Extended Gene-Drug Reporting in VarSeq

May 27, 2025

Pharmacogenomic (PGx) analysis empowers researchers and clinicians to tailor drug therapies based on a patient’s genetic profile, but not all regions of the genome are easy to interpret. Genes like CYP2D6 and HLA-A are tricky when it comes to rendering diplotype calls. This is due to a number of factors…

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Golden Helix Launches Enterprise Genomic Analysis with VarSeq 3 and VSWarehouse 3

May 22, 2025

Today, we announced the release of VarSeq 3 and VSWarehouse 3, marking a major milestone in enterprise-scale secondary and tertiary genomic analysis. The release introduces cloud-native deployment options optimized for AWS and Azure, expanded support for hybrid and on-premise support, flexible licensing models, including per-sample packaging tailored to small and…

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Customized Auto Variant Interpretation in VarSeq

May 15, 2025

The VarSeq platform has been on the market for over a decade and has established itself as robust and powerful clinical-grade bioinformatics software. Its usage spans many types of analysis, including pharmacogenomics, rare disease, hereditary cancer, somatic, carrier risk, and trio/family. Fundamentally, users have the freedom to build any workflow…

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Leveraging ClinVar Curated Databases in VarSeq

May 13, 2025

ClinVar is a global, publicly accessible database maintained by the National Center for Biotechnology Information (NCBI) that archives interpretations of human genetic variants and their clinical relevance. ClinVar consists of contributions from clinical labs, expert panels, and research groups, and serves as a community-powered knowledge base that is foundational for…

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Automating Carrier Screening Analysis Using VarSeq

May 8, 2025

VarSeq, when used with VSPipeline, automates carrier screening analysis, allowing labs to run them in a parallelized, economical fashion.

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You Might Not Need Citrix

May 8, 2025

Your Genomic Analysis Platform Already Solves Remote Application Delivery Delivering enterprise applications to users is a solved problem, and for many organizations, that solution has been Citrix. It’s the de facto choice for centralizing and securing remote application access, especially for Windows environments. With the right IT support, it gets…

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Golden Helix Customer Publications

Apr 29, 2025

NGS Software is Bridging the Gap Between Discovery and Practical Application Researchers, clinicians, and scientists need cutting-edge solutions to better understand the complexities of human genetics. By delivering high-quality analysis tools and advancing the interpretation of genomic data, Golden Helix bridges the gap between discovery and practical application. Our NGS…

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Webcast Follow-Up: Powering Genomic Workflows with Upgraded Catalogs in VSWarehouse and VarSeq 3

Apr 24, 2025

Thank you to everyone who joined our recent webcast, “Powering Genomic Workflows with Upgraded Catalogs in VSWarehouse and VarSeq 3,” presented by Gabe Rudy on April 23rd, 2025. We appreciate the engagement and interest in the latest advancements to our platform. For those who missed it or need a recap,…

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Golden Helix Partners with the Danish Healthcare Regions to Drive Advancements in Genomic Medicine

Mar 10, 2025

Golden Helix, a global leader in bioinformatics solutions for Next-Generation Sequencing (NGS) and precision medicine, is proud to announce a multi-year agreement with all Danish healthcare regions. The agreement aims to enhance the genomic capabilities of multiple laboratories within the regions, supporting critical advancements in cancer and hereditary disease diagnostics.…

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Webcast Recap: Introducing VarSeq Dx as a Medical Device in the European Union

May 23, 2024

This last Wednesday we introduced VarSeq Dx Mode which enables customers to use VarSeq as a CE marked in vitro diagnostic medical device! If you missed our live webcast, no problem! You can watch the recording here. In brief, we started out discussing IVDR and that it establishes standardization for…

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