In trio workflows, one of the most important factors in scoring a variant is understanding how that variant is inherited from the parents. Likewise, when looking at extended families, the segregation, or presence of the variant among the affected versus unaffected individuals provides evidence for its pathogenicity for a given phenotype or disease. Given the nature of Copy Number Variants… Read more »
We are honored to be recognized in this year’s 2020 Biotechnology Awards by GHP Magazine — thank you!Find the full list of winners here. “Covering a variety of verticals, including bio agriculture, bio services, bio industrial and biopharmaceutical, the biotechnology market are under the microscope in Global Health & Pharma’s Biotechnology Awards. Boasting impressive market value growth with no signs… Read more »
VarSeq 2.2.1 was released on April 1st and features an upgraded gene annotation capability with new RefSeq genes tracks and an AMP workflow addition: the Drugs and Trials tab. The new RefSeq human genome genes tracks contain updated gene names and the recognition of any MANE (Matched Annotation from NCBI and EMBL-EBI) identified transcripts. VarSeq has been updated to be… Read more »
Thank you to everyone who joined me for yesterday’s webcast, Using VarSeq Templates to Advance and Customize Variant Analysis, I hope you all enjoyed it. If you missed the live event and are interested in knowing what we talked about, good news, you can watch the recorded version right here! There were so many great questions asked during our Live… Read more »
Supporting the Fight Against COVID-19: Discounted Software Licenses for Clinical Research For more than 20 years, Golden Helix has remained steadfast in our mission to empower precision medicine around the globe. Throughout this time, we’ve had the privilege of supporting clinicians, researchers, and healthcare professionals working at the forefront of genomic discovery and clinical diagnostics. Now, as the world faces… Read more »
Our Support Team curates a variety of tutorials to help orient new users to the capabilities of VarSeq. We are happy to announce the team’s new release of the trio tutorial that places emphasis on using the ACMG guidelines. This tutorial gives insight into the proper setup of pedigree structure as well as detailed descriptions of the filter containers and… Read more »
In these very uncertain times, it has been uplifting to read the wonderful work Golden Helix customers have been doing across the globe! In March 2020, the focus of this blog is on published articles relating to congenital defects and early development. Congratulations to all our customers who have published papers and please enjoy a small sampling of their work…. Read more »
At Golden Helix, customer support is our number one priority. This commitment extends beyond technical assistance—it includes the health, safety, and overall well-being of our entire community. During this time of global uncertainty, we want to first acknowledge the incredible dedication of healthcare professionals and frontline workers around the world. Their efforts to combat the COVID-19 outbreak are nothing short… Read more »
We’re thrilled to share that Golden Helix has been recognized by CIO Look as one of the Top 10 Most Trustworthy Bioanalysis Companies in the World. This recognition highlights our dedication to supporting clinical labs and healthcare organizations with cutting-edge, affordable, and reliable software solutions for genomic data analysis. For more than two decades, Golden Helix has remained focused on… Read more »
Generating a clinical report is the final step of most NGS pipelines and is important as it relays results and information to legacy systems, physicians and ultimately the patient. As reporting is a valuable process, Golden Helix offers reporting capabilities according to the ACMG and AMP guidelines but also as a standalone feature in VSReports. VSReports is a platform that… Read more »
Introducing Drugs & Trials for Cancer Diagnostics VSClinical offers enormous simplicity and consistency in evaluating biomarkers and providing treatment options. Last month, we announced our newest feature to now include the automated collection of relevant clinical trials. The new capability was unveiled in our “Introducing Drugs & Trials for Cancer Diagnostics” webcast with Nathan Fortier, Ph.D., Director of Research, showing… Read more »
At Golden Helix, we want our new users to hit the ground running with VarSeq and not spend oodles of time getting started building and automating their workflows. To achieve this goal, our team has generated blogs, webcasts, and tutorials that explain and demonstrate workflows that are possible with VarSeq. Each VarSeq tutorial offers step by step instruction in which… Read more »
Our customers are making great contributions to human research and precision medicine every month! In February 2020, VarSeq’s Clinical Suite dominated the published works citing Golden Helix. It is an honor for us to be at the forefront of so many important genetic investigations and we appreciate the efforts of those who work for the greater good. Read further to… Read more »
Although VarSeq is intentionally designed to be a clinical NGS pipeline tool able to run a handful or even single samples through, we have many users who run large cohort style studies with the tool as well. One common use is to compare case/control data to isolate variants shared among affected individuals and exclude those in unaffected. One incredibly powerful… Read more »
Since the initial release of the copy number variant algorithms in VarSeq, our team has created a variety of content to help users get started with building their copy number variant projects. In our webcast library, you can find a few of our recent webcasts in 2019 covering CNV workflows and validation: Or, if you prefer to take a more… Read more »
We would like to thank everyone who entered our 2020 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Dr. Robert Hamilton and Priyanka Kugamoorthy – SickKids Yearly Clinical Review of a Patient’s WGS Results Leads to a… Read more »
Golden Helix is in a unique position to provide a secure on-premise analysis solution. This capability is based on two enablers. First, we build our software solutions from scratch and from the ground-up with the assumption that it should run on any operating system and potentially behind firewalls or even without internet access. Second, we provide these solutions on a licensing model based on training and supporting users, not… Read more »
We are incredibly grateful to be recognized as one of the Top 60 Genetics Blogs on the Web by Feedspot. Our team is dedicated to educating our readers on how our solutions can help enable precision medicine, and we are so honored to have received this recognition. On our blog, you will discover posts touching on important topics, like cyber security strategies,… Read more »
Cyber security threats to organizations are more diverse and dangerous than ever, ranging from curious teenagers testing their skills to insider threats and state-sponsored hackers. On the highest-end, some state-financed actors extend their reach as far as possible into foreign countries. Motivation and intentions might vary, but the outcome for the targeted organization is the same. Data breaches lead to a lack of trust in the… Read more »
As many of our users know, GRCh38 VarSeq project templates come preloaded with the software and are designed to give users a baseline workflow to streamline their NGS analysis. These templates are tailored for various applications including tumor-normal, trios, cancer and hereditary gene panels, and ACMG Guidelines workflows. The templates contain application-specific annotation sources and algorithms that will automatically load… Read more »
