*The following text is only a preview of our new eBook “Genetic Analysis of the COVID-19 Virus and Other Pathogens”. Request a free copy to access the full version.* SARS-CoV-2 has just been recently discovered. The knowledge about this virus is fairly new and certain aspects of it are still under review or in-flux entirely as we learn more about… 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, 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 »
*The following text is only a preview of our new eBook “Genetic Analysis of the COVID-19 Virus and Other Pathogens”. Request a free copy to access the full version.* At the end of 2019, a virus appeared somewhere in the Chinese city of Wuhan. It caused cold and flu-like symptoms in most, but also pneumonia and death in a few…. 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! This month, 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. To… 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 »
Our customers are making great contributions to human research and precision medicine every month! In February, 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 see… 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 »
Data and security breaches are a fact of life. Organizations are aware of the threats and putting their best efforts up to prevent them as much as possible. Industries across the entire spectrum have been exposed in recent years. I will go through a few examples to show how pervasive this issue has become. Target One prominent data breach occurred in… Read more »
2020 has started strong for Golden Helix customers who are engaged in research projects! We are delighted to see so many publications in January citing our products. As always, we are proud to be a part of these scientific discoveries as well as many others, too numerous to mention! With depth impossible to capture in a few words, I encourage… Read more »
Hospitals and testing labs are undergoing a digital transformation like any other business in our time. They deal with personal data in categories with the highest level of security requirements: personal identity and medical records. The architecture chosen to store and analyze this data is critical to provide the best protection against a data breach incident. The liability and institutional… Read more »
When interpreting a variant using the AMP/ASCO guidelines for somatic variant interpretation, clinicians must determine whether the variant can be considered a biomarker that affects clinical care by predicting sensitivity, resistance, or toxicity to a specific therapy. Such a determination requires the investigation of multiple evidence sources, including clinical trials, FDA approved therapies and peer-reviewed studies. Unfortunately, strong evidence linking… Read more »
Clinical labs offer a unique and sophisticated product that is performed repeatedly with high standards of quality. VarSeq was developed to provide labs with the customization required for clinical genetic tests in a repeatable workflow. On top of this, VSClinical offers additional parameters and choices that can be made when designing the test workflow. In this blog series, we will… Read more »
Happy New Year! Certainly, I hope you had a relaxing time over the holidays with family and friends as well as a great start into the new year. 2019 was a real landmark year for Golden Helix. Please let me mention a few highlights: We launched VSClinical AMP in June 2019: This product is supporting the clinical variant interpretation based… Read more »
Genetic testing labs deal with personal data in categories with the highest level of security requirements: personal identity and medical records. Given the liability and risk associated with a breach of this secure information, it is not surprising that many labs and institutes that aggregate genomic data prefer, if not require, on-premise analysis and storage solutions. Golden Helix is in… Read more »
As clinical genetic tests have been adopted as a critical enabler of precision medicine, the number of tests offered by clinical labs and the volume of tested patients has grown by orders of magnitude in the past five years. The Gene Testing Registry, managed by the NIH, documented a rise from 13,000 to 60,000 tests offered in the US market… Read more »
Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Although CNV events are rare in the human population, constituting approximately 10% of the human genome, they are also associated with being causal mutations for disease phenotypes. Because of this, it is important for clinical and research settings to identify… Read more »
If you have watched this blog over time, it would be no surprise that Golden Helix invests a lot in curating genomic annotations for use with our clinical and research analysis products. Often, we spend considerable time on the attention to detail necessary to ensure the best experience for any data source by cleaning, normalizing, documenting and then distributing it through our data annotation server. Many annotations… Read more »
