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 »
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 »
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, 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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 »
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 menu. Right on time, Cousin Eddie arrives, family in tow…. Read more »
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 the answers: 1. Is it more expensive to run on… Read more »
Just in time for the holidays, 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 Sensitivity Interpretations. We have also reviewed and synthesized the consensus from the… Read more »
