Tag Archives: next generation sequencing

VarSeq’s NGS Panel Workflow: COL4A2 Variant from an Intellectual Disability Panel

         October 1, 2020

A common discussion with our customers includes the challenges with the tertiary stage of analyzing next-gen sequencing data. This is the stage where all data from gene panels, exome, or whole genome scale pass through filters to quickly isolate the clinically relevant variant contributing to a patient disorder. Golden Helix has recognized these challenges in the scale of data and… 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 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 »

Secondary Analysis 3.0 – New Version Release

         January 7, 2019

We have released a new version of my eBook, “Secondary Analysis 3.0”. To download a complimentary copy, I encourage you to do so here. Next-Generation Sequencing (NGS) promises to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there… Read more »

Great Time at AMP 2018

         November 6, 2018

We just got back from three busy days at the Molecular Pathology (AMP) conference in friendly San Antonio, Texas. Keeping up the Golden Helix conference momentum for the year, we had 3-4 in-booth demonstrations a day covering our CNV calling, variant interpretation, and data warehousing products for NGS-based genetic tests. And in short, NGS based tests for cancer and germline… Read more »

Genetic Testing for Cancer

         January 20, 2015

In 1914 the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time his ideas were equally revolutionary as they were highly contested. Fast forward. More than hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells. It can help us to understand mutations associated with cancer development and… Read more »