Category Archives: About Golden Helix

Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VSWarehouse

         August 27, 2020
VSWarehouse Updates

We have now reached the final blog of the NGS-Solutions for Clinical Variant Analysis series. Part I of this series explored the capture of variant classifications in the VSClinical environment when following the ACMG and AMP guidelines. Part II was similar in content but for the capture of clinically relevant copy number variants as well as using a CNV catalog… Read more »

Golden Helix gets full marks in ClinGen’s list of Genomic Analysis Software Platforms

         August 26, 2020
Clinical Genome Resource

The potential of genetic testing to impact a patient’s life has been greatly accelerated by the sharing of variant interpretations done by clinical labs in public repositories such as ClinVar. This is not an inevitable outcome, but the persistent work and advocacy of people like Dr. Heidi Rehm and organizations like ClinGen. We recently participated in a survey and vetting… Read more »

WT1 Mutations: Side-by-Side Germline and Somatic Variant Evaluation in VSClinical

         July 28, 2020

It is common knowledge that variants can be germline or somatic depending on whether the variant was inherited or acquired after birth. A well-known example is cancer-causing mutations in the BRCA genes, wherein the mutation may or may not have been inherited. Understanding the origin of the cancer-causing mutation is important when assessing potential treatment options as well as identifying… 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 »

Golden Helix’s Virtual 2020 Conference Booth

         June 24, 2020

In lieu of conferences making the absolutely necessary decision to cancel this year’s conference, we created our Virtual 2020 Conference Booth! Even though it will never compare to the real deal, we hope you enjoy this blog post containing a few events we had planned this year. To start, let us paint the picture with some of our favorite conference… Read more »

Coping Mechanisms in the COVID-19 World

         June 4, 2020
Working from home

Like many of you, I was supposed to attend the 2020 ACMG Meeting in San Antonio this March with a few colleagues. In addition to attending the conference, my first blog post for Golden Helix was going to be about our time at the conference. Thanks to the world-wide COVID-19 pandemic, none of us got to attend the conference. (We… 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 »

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 »

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 »

Powerful Cohort Analysis with VarSeq’s Count Alleles Algorithm

         February 25, 2020

Although VarSeq is intentionally designed to be a clinical NGS pipeline tool able to run a handful or even single samples through, we have many users who run large cohort style studies with the tool as well. One common use is to compare case/control data to isolate variants shared among affected individuals and exclude those in unaffected. One incredibly powerful… 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 »

Somatic Variant Calling with Sentieon: Customizations

         December 10, 2019
Sentieon

The first two blogs in this series covered Sentieon’s somatic variant calling from Tumor with Normal (Part I) and Tumor without Normal (Part II). In addition to providing multiple somatic variant calling processes, users also have access to high-sensitivity scripts and full support for the GRCh38 reference assembly. Without going into excessive detail, this final blog of the series will… Read more »

Somatic Variant Calling with Sentieon: Tumor-Only Workflow

         November 19, 2019
Sentieon

To recap what we have covered in this blog series thus far, Sentieon allows users to call somatic variants against a matched normal sample and a tumor-only analysis. Part I of this series covered the variant calling workflow for tumors with matching normal samples. However, a common situation would be to call variants for a tumor sample without the normal…. Read more »

Somatic Variant Calling with Sentieon: Tumor-Normal Workflow

         October 31, 2019
Sentieon

As I mentioned in the first part of this series, Sentieon allows users to call somatic variants against a matched normal sample and a tumor-only analysis. Utilization of a Tumor-Normal Workflow In addition to the fundamental process of alignment and variant calling, there are a few more steps that will improve the quality of your secondary analysis. Figure 1 (below)… Read more »

Our Philosophy on Quality in Product Testing and Development

         December 6, 2018

High product quality is a foundational characteristic of a useful and successful product. Quality testing, therefore, is a necessary, albeit an open-ended task. It can at times seem a limitless undertaking in the present using experience from the past to improve the future. Nonetheless, it is approached as a development stage at Golden Helix that is just as essential as… Read more »

Golden Helix Receives NIH-SBIR Phase 2 Grant 2R44 GM125432-02

         September 24, 2018

It is our distinct pleasure to inform the GHI community that we have been awarded a Phase II SBIR Grant from the National Institutes of Health. As we are also preparing to celebrate our 20th Anniversary, these two events invoke a lot of excitement within our company and what lies ahead, for not GHI only, but the genetics field entirely…. 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 »