Golden Helix Blog

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

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…

Read more →

VarSeq-Powered Discoveries: Advancing Precision Diagnostics in Rare Genetic Disorders

May 29, 2025

In the evolving landscape of genomic medicine, accurate interpretation of complex genetic data is critical for uncovering the molecular underpinnings of rare and undiagnosed diseases. VarSeq, Golden Helix’s robust and intuitive variant analysis platform, continues to empower researchers and clinicians worldwide in this mission. Recent publications highlight how VarSeq enabled…

Read more →

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…

Read more →

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…

Read more →

Golden Helix at ESHG 2025: Advancing Genomic Analysis in Milan

May 20, 2025

Golden Helix is thrilled to announce our participation at the European Society of Human Genetics (ESHG) 2025, where we will be in attendance from May 24–26 in Milan, Italy. Visit us at Booth #510 to explore how our cutting-edge solutions in NGS analysis, cancer diagnostics, and clinical genomics are accelerating…

Read more →

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…

Read more →

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…

Read more →

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.

Read more →

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…

Read more →

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…

Read more →

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,…

Read more →

Taking Control of Your Data: Why Ownership Matters in Genomic Analysis

Apr 21, 2025

In the rapidly evolving field of next-generation sequencing (NGS) and precision medicine, data sovereignty has emerged as a critical concern for bioinformatic operations. Healthcare organizations, molecular diagnostic laboratories, and government-funded genome centers worldwide increasingly recognize that maintaining complete control over high-dimensional genomic data isn’t merely about regulatory compliance—it’s fundamentally about…

Read more →

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…

Read more →

VarSeq for Rare Disease Analysis

Apr 8, 2025

Streamline rare and undiagnosed disease analysis with VarSeq—NGS software designed to simplify variant interpretation and diagnosis insights.

Read more →

Custom Applications in VSWarehouse 3: Running IGV Genome Browser from the Cloud

Apr 3, 2025

VSWarehouse 3 (VSW3) is a powerful genomic data warehousing solution that gives laboratories full control over their cloud deployments while ensuring security and flexibility. One of its most exciting new features is the ability to run custom applications directly from the browser. This means that users can launch specialized tools…

Read more →

Real-World Applications of VarSeq in Genetic Research

Mar 25, 2025

Genomic research is advancing at an unprecedented pace, and with it comes the need for powerful tools that can turn raw sequencing data into meaningful insights. VarSeq, our variant analysis and interpretation platform, has become a go-to solution for researchers tackling complex genetic questions. Whether in rare disease diagnostics, population…

Read more →