Search Results for: Report

The New ACMG-Based Trio Tutorial

         April 3, 2020

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 »

Customer Publications; Spotlight on Congenital Defects and Early Development

         March 31, 2020
customer

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 »

Webcast Recap: Drugs & Trials for Cancer Diagnostics

         March 5, 2020

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 »

Customer Publications Throughout February 2020

         February 27, 2020
customer

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 »

Cyber Security Strategies for NGS Testing Labs: Part IV

         February 13, 2020

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 »

Golden Helix Recognized as one of the Top 60 Genetics Blogs on the Web

         February 11, 2020

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 Strategies for NGS Testing Labs: Part II

         January 30, 2020

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 »

Customer Publications Throughout January 2020

         January 28, 2020

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 »

Cyber Security Strategies for NGS Testing Labs: Part I

         January 23, 2020

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 »

Introducing Drugs & Trials for Cancer Diagnostics

         January 23, 2020

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 »

Customizing Your VSClinical Workflow: Part I

         January 14, 2020

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 »

Securing Your Genomic Testing with Golden Helix

         December 19, 2019

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 »

Golden Helix’s End-to-End Architecture for Clinical Testing Labs

         December 19, 2019
Golden Helix's End-to-End Architecture

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 »

VS-CNV; Golden Helix’s solution to replace traditional methods

         December 17, 2019

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 »

Fast Annotations Around the Globe: Our Sydney and Frankfurt Data Mirrors

         December 3, 2019
Customer Publications

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 »

2019/20 Abstract Competition

         November 28, 2019
Recent Customer Publications

We look forward to hearing how you are using Golden Helix software in your clinical or research work! Golden Helix strives to enable precision medicine by developing powerful software to support researchers and clinicians with complex analysis. One of my favorite events of the year is our abstract competition. This competition allows us to help our community by recognizing innovative… Read more »

Customer Publications Throughout November 2019

         November 26, 2019
November Publications

November is the month where we pause to reflect on what we are thankful for. At Golden Helix, we are thankful for the many dedicated scientists and practitioners who are tirelessly working on new discoveries to enhance the lives of humans and preserve our food supply in the face of ever-changing conditions in agriculture. As always, we are proud to… Read more »

The New VSClinical ACMG Guidelines Tutorial

         November 21, 2019

Our tutorials are a popular resource for prospective users. We have added a tutorial to help introduce customers to the ease and utility of the ACMG Guidelines incorporated in VSClinical. The ACMG Guidelines are a collection of 33 criteria that are used to determine a variant’s level of pathogenicity. VSClinical and VarSeq make it easy for users to sort and… Read more »

Reflecting on AMP 2019

         November 14, 2019

Our team has returned from the annual meeting of the Association of Molecular Pathology (AMP 2019), and, as always, I am grateful for all the wonderful experiences we are bringing back with us. The plenary sessions and talks were bountiful, and we were very impressed with the well-organized exhibition. Hats off to everyone involved in planning this great event! Innovation… Read more »