Auto-Updating Template Sources

         May 21, 2020
ClinVar

In VarSeq 2.2.1, you can set template annotation sources to automatically update to the latest version. Previously, VarSeq templates were frozen in time. Now, each new project created from a template would use the same source that was used when the template was created. When you save a template, you can have the sources automatically update to the latest version…. Read more »

Genome Wide Association Tests and Mixed Linear Models in SVS

         May 19, 2020
SVS 8

SVS offers several options to conduct genome wide association tests and mixed linear models. At times, it can be challenging to decide which test, model, or adjustments to use when setting up your analysis. I want to briefly explore the options available in SVS for association tests, and mixed linear models to hopefully facilitate in understanding and choosing which options… Read more »

Clinical Variant Analysis for Cancer eBook – Second Edition

         May 14, 2020

This morning I released a new version of my eBook “Clinical Variant Analysis for Cancer – Second Edition.” The clinical utilization of Next-Generation Sequencing data to diagnose cancer has taken off, resulting in the need to standardize the interpretation and reporting of observed genomic variations. This eBook explores the entire clinical diagnostic process. It demonstrates how Golden Helix software can support clinicians with their… Read more »

Webcast Recap: Next-Gen Sequencing of the SARS-CoV-2 Virus with Golden Helix

         May 13, 2020

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 »

Golden Helix Releases Discounted Pricing for Select Packages

         May 12, 2020

Golden Helix has been committed to making sure our community has the tools and resources they need during this pandemic. We have developed several different assistance programs, such as our home office licenses for current users and our software discounts for COVID-19 related projects, to name a few. We have been approached by a number of labs not working with COVID-19… Read more »

Featured in Clinical Lab Manager: Leveraging Next-Generation Sequencing Technology in the Fight Against COVID-19

         May 5, 2020

It is an honor to be featured by Clinical Lab Manager where I discuss how Next-Gen Sequencing can be leveraged in the fight against COVID-19. You can access this article directly by visiting https://www.clinicallabmanager.com/thought-leadership/leveraging-next-generation-sequencing-technology-in-the-fight-against-covid-19-22584. If this is an area of interest for your organization, please reach out to our team and we would be happy to discuss this in more detail.

Recent Customer Publications – April 2020

         April 30, 2020
customer

Scientific investigations and genetic discoveries continue to happen in several diverse areas even while our world is currently consumed by the greatest health challenge of our era. Below are a few examples of some of the great work being done in the fields of human medicine, ecology, and breed conservation of animal species. As always, we are so very proud… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part IV

         April 28, 2020

Next-Generation Sequencing (NGS) technology has decreased the price of nucleotide sequencing exponentially in the last 10 years. The clinical applications are broad, from diagnosis of rare diseases, to carrier screening and hereditary disease risk, and finally, for the personalized treatment of cancer with molecular profiling of tumors for therapeutic, diagnostic, and prognostic genomic biomarkers.  Discovery and Sharing of the Reference Genome for SARS-CoV-2  With… Read more »

Featured in The Journal of Precision Medicine: Best Practices for NGS-Based Cancer Diagnostics

         April 27, 2020

It is an honor to be published in The Journal of Precision Medicine’s March 2020 issue where I have outlined the current best practices for NGS-based cancer diagnostics. In this article, I detail: The need to standardize clinical reporting Popular annotation sources and functional prediction algorithms The AMP Guidelines and how these can be applied with Golden Helix’s Diagnostic Platform… Read more »

Detecting de Novo Copy Number Inheritance and Family Segregations

         April 23, 2020

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 »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part III

         April 21, 2020

*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.* Next-Gen Sequencing (NGS) of the novel virus can make a tremendous contribution in enhancing our understanding of the underlying pathways in which it impacts humans. In a short period of time… Read more »

Golden Helix Recognized in GHP Magazine’s 2020 Biotechnology Awards

         April 14, 2020

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… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part II

         April 14, 2020

*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 Release Notes

         April 10, 2020
ClinVar

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 »

Webcast Recap: Using Varseq Templates to Advance and Customize Variant Analysis

         April 9, 2020

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 »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part I

         April 7, 2020

*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 »

Golden Helix Software Discounted for COVID-19 Related Projects

         April 6, 2020

For more than 20 years, Golden Helix has focused on our mission to empower precision medicine around the world. We want you to know you have our commitment to continue providing you with the products and services you depend on during these unprecedented times. Today, we have announced our latest efforts to help assist the clinical research community in this… Read more »

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 »

New eBook Release: Genetic Analysis of the COVID-19 Virus and Other Pathogens

         March 31, 2020

This morning I released a new eBook titled “Genetic Analysis of the COVID-19 Virus and Other Pathogens“.  The COVID-19 pandemic is reaching historic proportions. We are dealing with an infectious disease that is caused by a novel coronavirus we discovered just a few months ago. Since then, it has brought healthcare systems to the brink, it altered how we work,… Read more »