Utilizing VarSeq for the Analysis of Rare and Undiagnosed Diseases
Streamline rare and undiagnosed disease analysis with VarSeq—NGS software designed to simplify variant interpretation and diagnosis insights.
Custom Applications in VSWarehouse 3: Running IGV Genome Browser from the Cloud
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 to analyze and visualize genomic data without leaving their secure… Read more »
Real-World Applications of VarSeq in Genetic Research
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 genetics, cancer research, or infectious disease studies, VarSeq provides the… Read more »
Webcast Covering Dynamic and Flexible Fullstack NGS Pipelines in VSWarehouse 3
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 3 (VSW3): Questions Q: Could you clarify ‘tasks’ versus ‘workflow’… Read more »
Golden Helix Showcases Enterprise Genomic Solutions at ACMG 2025
Join Golden Helix at ACMG 2025 for Exclusive Demos and Innovations Explore Our Latest Genomic Tools at Booth #722 Golden Helix is excited to announce our participation in the 2025 ACMG Annual Clinical Genetics Meeting from March 19 – 21 in Los Angeles, California. This premier event gathers professionals from the medical genetics community worldwide for four days of education,… Read more »
Compute Fields to the Rescue: Creating Additional Fields from Your VCF
We on the FAS Team recently had a case we wanted to share where Compute Field could help a customer navigate filtering a unique edge case. This edge case coincides with the rising popularity of filtering on a specific value for the Alternate of the Allelic Depths Column. Said another way, we could be looking for Alt DP greater than… Read more »
Golden Helix Partners with the Danish Healthcare Regions to Drive Advancements in Genomic Medicine
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. In a unified effort across Denmark’s healthcare regions, the laboratories… Read more »
The VSWarehouse 3 End-User Experience: Improvements In All the Right Places
Clinical variant analysis experts with fully integrated workflows are often hesitant to upgrade or migrate their workspace, and rightly so. Similarly, those looking for new next-generation sequencing analysis software, whether for secondary (alignment and variant-calling) or tertiary (variant annotation, filtration, interpretation, and reporting) analysis, can be easily daunted by the breadth and depth of the process of setting up a… Read more »
VarSeq in Action – Recent Customer Publications
Advancements in genomic analysis tools have significantly enhanced the identification and characterization of genetic variants associated with complex diseases. VarSeq, our flagship powerful variant annotation and filtration software, plays a crucial role in streamlining whole-exome sequencing (WES) data analysis, enabling researchers to detect pathogenic mutations efficiently. By utilizing VarSeq’s comprehensive annotation capabilities, researchers were able to filter and prioritize variants,… Read more »
VarSeq PGx: Flexible import of array and NGS data
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 has grown and improved, the scope of available genomic markers… Read more »
Bringing Phasing Information from Long-Read Data into a Trio Analysis
Golden Helix customers continue to push the boundaries of genomic research and clinical applications, leveraging VarSeq to analyze complex genetic data and uncover previously uncatalogued variants. With advancements in long-read sequencing and our recent updates to the VarSeq software, clinicians can now harness phasing information to distinguish between inherited and novel mutations in a Trio analysis with unprecedented accuracy. In… Read more »
Are these meds safe for me? Assessing drug safety risk with VSPGx
When prescribing medications, it is important that healthcare providers be aware of any potential risks a drug may pose to a patient. Pharmacogenomics (PGx) is the field of study that informs how a person’s genetic makeup affects their response to medications. This field is an important part of precision medicine and tools like VarSeq PGx (VSPGx) enable clinicians to use… Read more »
VarSeq Empowers Genomic Discoveries
At Golden Helix, we’re proud to see how VarSeq is transforming the landscape of genetic research and clinical diagnostics. From variant annotation and filtering to in-depth visualization, VarSeq’s powerful suite of tools helps researchers uncover critical genetic insights with confidence and efficiency. In this blog post, we’re excited to showcase recent publications where VarSeq played a pivotal role in identifying… Read more »
CADD 1.7 in VarSeq Enables Enhanced Prioritization of Missense and Non-Coding Variants
We are excited to announce the addition of CADD 1.7 as an annotation track in VarSeq. The latest release of CADD incorporates a variety of new annotations into its model, resulting in significant improvements in variant scoring. This includes the integration of Meta ESM scores and improved performance on non-coding variants. Meta AI Evolutionary Scale Model One of the most… Read more »
Best Practices for Variant Annotation and Filtration – Germline Variant Analysis
Golden Helix field application scientists curate a set of FAS templates that capture best practices for filtering, which we use when training and onboarding customers. In addition to the basic templates that come default with the software, these more fleshed-out templates are available upon request. This first blog in the series focuses on germline variant analysis. Rare pathogenic variants The… Read more »
Harnessing the Power of VarSeq: Recent Publications
Next-generation sequencing (NGS) has transformed our ability to detect the genetic causes of diseases. VarSeq is a key tool in this process because it helps users sift through large numbers of genetic variants to find those most likely to cause or contribute to disease. The below publications have demonstrated VarSeq’s usefulness in discovering new gene variants related to neurodevelopmental disorders,… Read more »
Golden Helix: Charting Our 2025 Strategy
We just wrapped up a dynamic and rewarding 2024. Hence, we want to take a moment to celebrate key milestones that have set the stage for our next chapter. This year, we pushed our solutions to new frontiers in clinical genomics. Here are the major accomplishments of last year: 1. Pharmacogenomics: releasing VSPGx entering into a new class of genetic… Read more »
Bringing Variant Analysis to your Browser with VSWarehouse 3
In our recent post on VSWarehouse 3, we discussed how our comprehensive workflow system streamlines genomic analysis pipelines by directly integrating with your existing cloud infrastructure. Today, we will explore how you can use VarSeq to analyze the data produced by these workflows directly in your browser. Bringing VarSeq to Your Browser With VSWarehouse3, our premier variant analysis platform is… Read more »
VSWarehouse 3 as an Integration Platform
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 3 Workflows At its core, VSWarehouse 3’s workflow system is… Read more »
How Customers Are Using VarSeq to Drive Genetic Discoveries
Golden Helix customers are at the forefront of genetic research, using VarSeq to tackle some of the most challenging questions in genomics. From identifying novel variants to uncovering the genetic basis of rare diseases, their work showcases the power of VarSeq in real-world applications. In this blog, we’re highlighting three recent publications that demonstrate how customers are using VarSeq to… Read more »