Thank you to those who attended our recent webcast, “PhoRank 2.0: Improved Phenotype-Based Gene Ranking in VarSeq”. For those who could not attend, you can find a link to the recording here. This webcast covered upcoming improvements to the PhoRank phenotype-based gene ranking algorithm based on literature published in the years since the algorithm’s development. The PhoRank Algorithm When performing… Read more »
Thank you to those who attended the recent webcast, “High Precision Exome CNV Detection with VS-CNV”. For those who could not attend but wish to watch, here is a link to the recording. This webcast delved into the complex world of CNV calling for whole-exome samples, which presents unique challenges that require specific considerations and strategies. Over the past several months,… Read more »
We would like to thank everyone who entered our 2021 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: Viney Gupta – All India Institute of Medical Sciences – AIIMS Digenic Inheritance in Juvenile Open-AngleGlaucoma Sign up for… Read more »
Webcast Recap In the recent webcast “Exploring New Features and Clinical Reports in the ACMG Guideline Workflow”, Gabe and I took viewers through an evaluation with CNVs and SNVs according to the ACMG Guidelines where we generated and customized a clinical report. Along the way, we highlighted many new features that will soon be available in the upcoming VarSeq release…. Read more »
In the webcast, Evaluation of Copy Number Variants with VSClinical’s New ACMG Guideline Workflow, we discussed how VSClinical implements Section 4 of the ACMG guidelines. Specifically, we focused on integrating literature and publications to assess the pathogenicity of a CNV event when there was a lack of dosage sensitivity information. One of the primary pieces of evidence for evaluating genes… Read more »
Abstract Before assessing the clinical significance of a somatic mutation, one must determine if the mutation is likely to be a driver mutation (i.e. a mutation that provides a selective growth advantage, thereby promoting cancer development). To aid clinicians in this process, VSClinical provides an oncogenicity scoring system, which uses a variety of metrics to classify a given somatic mutation… Read more »
Thank you to everyone who joined me for our latest webcast, “Next-Gen Sequencing of the SARS-CoV-2 Virus with Golden Helix.” If you missed the live event and are interested in knowing what we talked about, you may access the recorded event below: Our Live Q&A generated a lot of great questions. Unfortunately, we were unable to answer them all, but… Read more »
Thank you to everyone who joined me for yesterday’s webcast, 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 Q&A that I was unable to answer all of… Read more »
Golden Helix ships a variety of templates that are designed to provide a starting point for users to evaluate variants in VarSeq. Naturally, as users become more familiar with the software, there is a desire and necessity to tailor the template design to accommodate a more thorough variant analysis. To add to these template customizations there are several algorithms and… 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 »
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 »
Thank you all for tuning in to yesterday’s webcast, “Simplify Your GWAS & Genomic Prediction with SVS”. I hope you all enjoyed it as much as I did! If you didn’t get a chance to join us for this live webcast, you can watch the recording below. We covered a lot of topics in so little time, but you all… Read more »
This month’s webcast delves into VSWarehouse with a focus on our new capability of storing somatic variant projects and catalogs built for the AMP Guidelines within VSClinical. If you didn’t have a chance to join us for the live event, please enjoy the video recording below. Previous webcasts have gone into great detail on the features and processing of somatic… Read more »
September 27, 2017 12:00 PM, EDT While Copy Number Variants are important to detect and interpret in many clinical genetic tests, labs have been without a comprehensive solution that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants. Golden Helix has developed and validated with our clinical partners a specialized NGS-based CNV caller capable of detecting… Read more »
Join us for a guest presentation Personalized Medicine through Tumor Sequencing by Dr. Jeffrey Rosenfeld! Wednesday, September 7th 12:00 pm EDT The identification of medications that target specific gene mutations is one of the major recent advances in cancer therapy. In 2001 Gleevec was approved to treat patients with the BCR-ABL fusion in chronic myelogenous leukemia (CML). Since then many more drugs… Read more »
Last week we conducted a webcast on “Cancer Gene Panels”; you can find the recording here. We had some excellent questions which we answered during the webcast and a few more that we didn’t get to in the allotted time. Please find answers to those questions here: 1. Are Cancer Gene Panels just another stepping stone on the way to… Read more »
We are shortly approaching the public launch (November 5th!) of our first clinical product, VarSeq. We could not have predicted how well the market would accept VarSeq – but we couldn’t be happier! For those of you who have not yet seen our newest product in action, I invite you to register for tomorrow’s webcast: The Golden Helix VarSeq User Experience.
Genomic research is exploding. There is a plethora of new methods and workflows for research and clinical use. While we are a software company at heart, we find ourselves in the role of educators. Our customer interactions are about informing, teaching, and consulting. A few years back, we started with regular webcasts that took this idea to the next level…. Read more »
It is with great excitement that we introduce our next webcast: Population Structure & Genetic Improvement in Livestock, presented by Dr. Heather J. Huson of Cornell University. Huson was one of the first place winners in this year’s research abstract competition. As part of the competition Huson has the opportunity to present her research in a webcast on Tuesday July… Read more »
Join us tomorrow, July 9th at 12PM EDT, for Ashley Hintz’s webcast on GWAS in a Model Organism: Arabidopsis Thaliana. Joining the Golden Helix team as a Field Application Scientist in April of 2014, Hintz is the perfect candidate to present on Arabidopsis Thaliana given her background in zoology and phylogenetics of planigales.