Golden Helix Blog

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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Golden Helix: Charting Our 2025 Strategy

Jan 2, 2025

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.…

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Bringing Variant Analysis to your Browser with VSWarehouse 3

Dec 12, 2024

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…

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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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How Customers Are Using VarSeq to Drive Genetic Discoveries

Dec 4, 2024

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…

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Complex Variants for Acid Reflux, Right in Time for Thanksgiving!

Nov 26, 2024

It’s the big day, and you’ve spent hours preparing for the big old-fashioned family Thanksgiving. Keeping in mind that your Cousin Eddie likes to show up unannounced and eat you out of house and home, you have remembered our food allergy allele workflow from last year, and prepared a special…

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Webcast Follow-Up: Answering Your Questions on VSWarehouse 3 and Bring Your Own Cloud

Nov 21, 2024

Thank you to everyone who attended our recent webcast, Bring Your Own Cloud: Clinical Testing at Scale with VSWarehouse 3. We’re thrilled about the level of engagement during the Q&A session and wanted to take the opportunity to elaborate on some of the key questions asked. Here’s a recap of…

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Golden Helix CancerKB 4.0 is Officially Released!

Nov 19, 2024

Just in time for the holidays, Golden Helix CancerKB 4.0 is now available to incorporate into your cancer analysis workflows! We have termed this release “The Hematological release” as we boast of complete coverage of the NCCN Guidelines recommended therapies and FDA-approved therapies for all hematological cancers in our Drug…

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Don’t Miss MITOMAP for Mitochondrial Variant Analysis in VarSeq

Nov 12, 2024

Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), represent a complex and diverse group of disorders. These conditions often affect organs with high-energy demands, such as the brain, heart, and muscles. Identifying mitochondrial DNA variants and understanding their clinical relevance is essential for diagnosing and treating these diseases. One…

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