Golden Helix Blog

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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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…

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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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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.

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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…

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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…

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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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Golden Helix Showcases Enterprise Genomic Solutions at ACMG 2025

Mar 13, 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…

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Compute Fields to the Rescue: Creating Additional Fields from Your VCF

Mar 11, 2025

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…

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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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The VSWarehouse 3 End-User Experience: Improvements In All the Right Places

Mar 4, 2025

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…

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VarSeq in Action – Recent Customer Publications

Mar 3, 2025

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…

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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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Bringing Phasing Information from Long-Read Data into a Trio Analysis

Feb 11, 2025

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…

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Are These Meds Safe for Me? Assessing Drug Safety Risk with VSPGx

Feb 6, 2025

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…

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VarSeq Empowers Genomic Discoveries

Feb 3, 2025

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…

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CADD 1.7 in VarSeq Enables Enhanced Prioritization of Missense and Non-Coding Variants

Jan 28, 2025

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…

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Best Practices for Variant Annotation and Filtration – Germline Variant Analysis

Jan 14, 2025

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…

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Harnessing the Power of VarSeq: Recent Publications

Jan 14, 2025

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…

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