Cloud computation is a hot topic across industries that require scalable software solutions to enable growth, and for good reason. The cloud, in all its mystical appeal, has so mellifluously penetrated the zeitgeist that experts engaging with new software solutions are often eager to hear how they fit into the cloud computing ecosystem. In the world of next-generation sequencing (NGS),… Read more »
Variant curation is one of the most important aspects of a next-generation sequencing workflow. The routine application of previously rendered interpretations, paired with the ability to take into account evolving knowledge bases, allows clinical practices to rapidly and accurately provide life-saving results to patients. Hence, assessment catalogs, versatile databases that store variant interpretations for rapid access, form one of the… Read more »
Bioinformatic freedom is core to the user experience with Golden Helix software, a topic with which you will be well-versed if you’ve kept up on our recent blogs. We are constantly endeavoring to provide our users with powerful tools to tackle complex and impactful next-generation sequencing (NGS) workflows while maintaining transparency and the ability to customize and augment each component… Read more »
With the release of VarSeq 2.5.0, Golden Helix customers can now perform an unprecedented number of workflows within a single software suite. Carrier status analysis, multi-sample clinical workflows, and a built-in oncogenicity scorer augment the already diverse and robust set of tools encompassed by VarSeq. In addition, we have continued to improve VarSeq’s ability to handle multiple data inputs, from… Read more »
…so we added some automation to your automation so you can automate while you automate! Automation has been a hot topic recently and for all the right reasons. As we (proudly) watch our customers increase their sample and data volume, we are constantly seeking to provide tools to reduce click rate and optimize throughput. Furthermore, with all of the new… Read more »
Configuring a bioinformatic pipeline to reliably process genomic data is no small task. Doing so in an efficient, consistent way is an even grander challenge. Luckily, the VarSeq software suite provides a comprehensive toolbox for automation and integration. One of the first questions a new VarSeq user might ask is where processed data needs to end up. The versatility of… Read more »
Learn how VarSeq revolutionizes NGS workflows by enabling the integration of comprehensive internal databases, allowing bioinformaticians to create custom pipelines and maximize data analysis efficiency. Are you a current (or future) VarSeq user with a perfect, comprehensive, internal database you simply can’t part with and can’t replicate? Do you dream of coalescing many disparate workflows into a consistent, reliable pipeline?… Read more »
Enhancing VarSeq Customization and Automation with Visual Studio Code: A Guide to Evaluation and Reporting Scripting Are you as excited as we are about the new automation and customization features we’ve been rolling out with VarSeq’s most recent release, VarSeq 2.3.0? Do your eyes light up at the prospect of automated integration of various data sources into VarSeq’s evaluation and… Read more »
Discover the Thrilling Automation Capabilities of VarSeq Suite for NGS Testing and Learn How We’re Tackling Contemporary Lab Challenges First off, I’d like to thank everyone who joined us for our February webcast on the automation capabilities of the VarSeq software suite through VSPipeline. For those of you who joined us, I’m sure it’s obvious that automation is a topic… Read more »
Golden Helix provides extensive resources to help our users who are just getting started and address any issues they may encounter as they become more familiar with our software. Our resources are constantly updated and are tailored to the needs of our users. If you’re facing a problem, it’s likely that others have encountered it as well, and we’ve included… Read more »
The ACMG classification guidelines for variant pathogenicity are as ubiquitous as they are complicated to implement. They play a consistent and evolving role in the standard workflows of many experts in the next-generation sequencing field, both in the clinical and research space. Furthermore, they can be effectively applied in both somatic and germline workflows. Hence, consistent and auditable methods for… Read more »
The ability to analyze copy number variants (CNVs) is an important aspect of any clinical or research workflow. While calling CNVs can be a challenging engineering problem, we are thrilled by our capacity to detect, analyze, and catalog CNVs all in the same place with VarSeq-CNV. In this blog, we will dive into the particulars of detecting CNVs with gene… Read more »
Thank you to those who attended our webcast on the user perspective of our automated AMP guidelines! Furthermore, let me express our appreciation for those particularly engaged users who posed some very thoughtful questions. While we weren’t able to answer all of them live, I hope to shed some light on some pertinent details of somatic analysis here. Let’s start… Read more »
