Category Archives: Big picture

Management of Large-Scale Genomic Data with VarSeq Warehouse

         December 14, 2023

VarSeq Warehouse is the solution provided by Golden Helix for management of large-scale genomic data. It serves a centralized, indexed variant repository that stores variants and assessments from selected samples or projects. Management of large-scale genomic data with VSWarehouse allows entire teams, including collaborators, to manage various high level aspects of their NGS workflows, such as allele frequency tracking across… Read more »

Data Viewing with VarSeq: Plotting Tracks!

         June 26, 2023

In recent weeks, GenomeBrowse capabilities have had a sudden resurgence of interest among our customers. To support this, the FAS team wanted to share with you several under-utilized GenomeBrowse plotting tricks. First, let’s cover plotting a BED file for easy track viewing. The first step is launching a GenomeBrowse window by clicking the + button and selecting GenomeBrowse (Figure 1)… Read more »

Transitioning to Broad-Scale Genomics: From Gene Panels to Whole Genome Sequencing

         May 16, 2023

Explore the evolving landscape of genomic analysis, transitioning from targeted gene panels to whole genome sequencing. A recent trend with our customers has been to expand their workflows from small panel sequencing analyses to larger whole exome and genome sequencing analyses. The decreasing cost of sequencing has made this a rather common request. Although more data allows for a greater… Read more »

Impressions from ACMG 2022

         March 31, 2022

This year’s ACMG conference in Nashville, TN, marked a positive turning point after two years of virtual meetings in our community. The conference was well attended and found an outstanding balance between on-site meetings and virtual talks. From the Golden Helix perspective, it was wonderful to connect with customers and partners at the event. We were very humbled by the… Read more »

How a neonate’s rash can be one of your most important pieces of data: making phenotypic info statistically tractable for clinical diagnostics

         August 5, 2021

I remember visiting a patient in the NICU amongst the incubators, some glowing blue like tiny tanning beds to treat jaundice, all containing tiny humans – many smaller than a loaf of bread. Infants get admitted into the neonatal intensive care unit or NICU for many reasons ranging from elevated bilirubin, hypoglycemia, sepsis, and respiratory distress (RDS). Many are eventually… Read more »

Highlights from our PhoRank 2.0 Webcast

         June 10, 2021

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 »

Webcast Recap: Exome Analysis with VS-CNV and VSClinical: Updated Strategies and Expanded Capabilities

         April 8, 2021
Exome CNV webcast

Thank you to those who attended the recent webcast, “Exome Analysis with VS-CNV & VSClinical: Updated Strategies & Expanded Capabilities”. For those who could not attend but wish to watch, here is a link to the recording. In this webcast, we covered the capabilities and updates that have been incorporated into VarSeq that enhance whole exome sequencing workflows. The new… Read more »

What to expect from Golden Helix in 2021

         January 1, 2021

Happy New Year! I hope you had an opportunity to relax over the holidays with your family and friends. It’s time to start talking about our plans for the New Year, but first, please allow me to review a few highlights from 2020 that helped build a foundation for our future. Growth: Golden Helix was named to the 2020 Inc… Read more »

Featured in The Journal of Precision Medicine: Golden Helix’s Recent Release for a New Workflow for Interpretating and Reporting Copy Number Variants in Concordance with the Recently Updated ACMG Guidelines: Introduction

         December 28, 2020

Have you seen us in The Journal of Precision Medicine? Last week, our team released VarSeq 2.2.2 loaded with a number of updates and VSClinical’s highly-anticipated ACMG-CNV Guideline workflow! We have spent the past several months sharing webcasts and blogs on this new capability. We are honored to also have this new solution recognized in The Journal of Precision Medicine… Read more »

Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VSClinical’s Assessment Catalog

         August 14, 2020

It doesn’t take much effort to find articles discussing the value of Next-Generation Sequencing (NGS). There is a consistent tone amongst authors that implementing NGS pipelines are critical for clinical efficiency in both hereditary disorders and somatic. However, NGS strategies do not come without their own challenges. Challenges include not only the detection and calling of high quality/probability variants from… Read more »

Featured in The Journal of Precision Medicine: Diagnosing and Tracking COVID-19 Infections Leveraging Next-Gen Sequencing

         July 8, 2020

It is an honor to be published in The Journal of Precision Medicine’s June/July 2020 issue in an article co-authored by Dr. Christiane Scherer and myself, “Diagnosing and Tracking COVID-19 Infections Leveraging Next-Gen Sequencing.” In this article, I detail: The key facts about COVID-19, reviewing the epidemiology, reservoir hosts, transmission routes, and clinical manifestation. Answering the question of how Next-Generation Sequencing can… 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 »

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.

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 »

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 »

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 »

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 »

VarSeq Stable 2.1.0 Release Notes

         October 31, 2018
VSClinical algorithm

VarSeq Stable 2.1.0 is Ready for Clinical Validation, See it in Action Next Week This week we are happy to see the general availability of VarSeq 2.1, the culmination of the last five months of work since we launched VSClinical. We have been blown away by the adoption of VSClinical, outpacing any previous product launch in terms of the pace… Read more »

Future Direction of Golden Helix

         September 19, 2018

Celebrating our 20th Anniversary on September 15th, we took some time to reflect on the last two decades in this industry. Two decades of learning, adaption, and growth on the business side as well as the personal side. Employees began their careers with us, made new friends and started their own families. These past 20 years are full of stories… Read more »