Up until a few weeks ago, I thought variant classification was basically a solved problem. I mean, how hard can it be? We look at variants all the time and say things like, “Well that one is probably not too detrimental since it’s a 3 base insertion, but this frameshift is worth looking into.” What we fail to recognize is… Read more »
SVS 7.6.7 features new tools for filtering sequencing data based on functional predictions and allele frequencies. To complement these new features, new annotations tracks have been uploaded to our data server and are now available for our customers! Below you will find descriptions of the new tools and the related annotations track(s).
This month, our team at Golden Helix is proud to highlight a series of standout customer publications demonstrating the real-world impact of next-generation sequencing and variant analysis. Featured articles from June 2025 showcase the power of the VarSeq platform in supporting high-quality research across hereditary and somatic disease. From integrating AI to enhance variant detection in colorectal cancer, to reclassifying… Read more »
Here at Golden Helix, we continue to develop top-quality bioinformatic software to support high-throughput clinical next-gen sequencing pipelines, including long-read whole-genome-sequencing (WGS) workflows. WGS long-read technologies like PacBio HiFi and Oxford Nanopore offer improved variant calling for SNVs, Indels, structural variants, tandem repeats and repeat expansions, and epigenetic modifications. Each of these genetic variations that are detected using long-read WGS… Read more »
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 and regulated environments, we recognize that consistency is critical. That’s why VarSeq offers robust support for workflow templates, enabling users to save, share, and reuse entire analysis… Read more »
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 including high polymorphism, structural variations (including copy number variants), and… Read more »
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 mid-sized labs. To support these new deployment and licensing models,… Read more »
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 clinical genetics. This powerful database is expectedly one of the… Read more »
VarSeq, when used with VSPipeline, automates carrier screening analysis, allowing labs to run them in a parallelized, economical fashion.
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 technologies play a critical role in accelerating genetic insights, supporting… Read more »
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 scientific autonomy, institutional independence, and long-term data stewardship within a… Read more »
Streamline rare and undiagnosed disease analysis with VarSeq—NGS software designed to simplify variant interpretation and diagnosis insights.
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 »
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 »
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 »
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 »
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 »
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 »
