Tag Archives: Golden Helix

Customer Publications Throughout June 2020

         June 25, 2020
customer

As I prepared to write the Customer Publication blog this month, I was excited by the number of recently published papers that stood as examples of how both VarSeq and SVS software are employed to advance diagnostics and treatments in human medicine. We often think of SVS as the go-to platform for Agrigenomics, however both of our platforms have broad… Read more »

Featured in Clinical OMICs: Enabling Precision Medicine with Cutting-Edge NGS Technologies

         June 22, 2020
Clinical OMICs May/June 2020

It is an honor to be featured in the Clinical OMICs May/June 2020 issue in a Q&A with the Editor discussing the past, present, and future of Golden Helix. In this article, I detail: Our most significant success throughout the past five years How our products differentiate Golden Helix in the market Our most significant opportunities in the next five years. If… Read more »

CADD Scores: New and Improved v1.4 and v1.5

         June 18, 2020

The University of Washington’s Combined Annotation Dependent Depletion (CADD) algorithm measures the deleteriousness of genetic variants. This includes single nucleotide polymorphisms (SNVs) and short insertions and deletions (indels) throughout the human reference genome assembly. This algorithm was introduced in 2014 and has since become one of the most widely used tools to assess human genetic variation. Since 2014, the algorithm has been… Read more »

Updates to Default Transcripts and Gene Preferences in VarSeq

         June 9, 2020

An under-appreciated area of complexity when looking into the field of genetics from the outside can be found in genes and transcripts. Alternative splicing allows eukaryotic species to have a wonderfully powerful genetic code, resulting in multiple protein isoforms being encoded in a single section of DNA. But when it comes to variant interpretation, different transcripts can result in widely different predicted… 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 »

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 »

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 »

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 »

2020 Abstract Competition Winners

         February 18, 2020
2020 Abstract Competition Winners

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 »

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 »

Cyber Security Strategies for NGS Testing Labs: Part III

         February 6, 2020

There is no shortage of actors in cyberspace who can be a potential threat to an organization. The list ranges from high schoolers who want to put newly acquired skills to the test, employees or partners who have access to the company network, to professional hackers who intend to hold data hostage or plan to resell information. On the highest-end, some state-financed actors extend their… Read more »

Updated GRCh38 VarSeq Project Templates

         February 4, 2020

As many of our users know, VarSeq comes shipped with various project templates that are designed to give users a baseline workflow to get started with their projects. 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 into… 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 »

Customizing Your VSClinical Workflow: Part II

         January 27, 2020

Customizing VSClinical ACMG Guidelines Workflow Part 2  In the first part of this series, we covered how VarSeq provides customization of the clinical analysis workflow process. VSClinical’s various customization parameters within the ACMG Guidelines workflow includes the choice of how the internal knowledge base of previous variant interpretations are stored and what considerations go into this choice. In this blog, we… 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 »