We started this month off on an exciting note as an article co-authored by a collaborator in Germany and myself was featured in the Journal of Precision Medicine.
September Newsletter
An Open Letter to Our Community

Featured in The Journal of Precision Medicine
By Andreas Scherer, PhD 
President & CEO

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

An Open Letter to Our Community

Using the AMP Guidelines for Rhabdoid Tumor Analysis in VSClinical
By Eli Sward, PhD
Field Application Scientist

Introduction: Malignant Rhabdoid tumors (MRT) are among the most aggressive and lethal forms of infant and child cancer (1). These tumors are characterized by an unusual combination of mixed cellular elements similar to but not typical of teratomas and can originate at any anatomic location. When MRTs are present in the brain, they are called atypical teratoid/rhabdoid tumors (AT/RT), which... Read More

Coming to SVS: LiftOver Capability

Coming to SVS: LiftOver Capability
By Eli Sward, PhD
Field Application Scientist

The world has been making a shift to use GRCh38 human genome reference coordinates, but the transition has not been fast. Many of the mainstay human catalog projects are changing to use native GRCh38 catalogs, or are remapping their current data to GRCh38 coordinates. While this seems to be the advancing goal, it is leaving researchers and analysts with the... Read More

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

WT1 Mutations: Side-by-Side Germline and Somatic Variant Evaluation in VSClinical
By Julia Love
Field Application Scientist

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

CEO Corner
New eBook: Clinical Variant Analysis for Cancer

We started this month off on an exciting note as an article co-authored by a collaborator in Germany and myself was featured in the Journal of Precision Medicine. Titled “Diagnosing and Tracking COVID-19 Infections Leveraging Next-Gen Sequencing”, this publication discusses key facts about COVID-19 and answers the question of how Next-Gen Sequencing can be utilized in the clinic for diagnosing and tracking purposes. Shortly after this, we hosted our July webcast "Whole Genome Trait Association in SVS" which introduced the latest features and capabilities that are coming to SVS in our latest release. We are looking forward to finishing this summer off on a strong note, so keep an eye out for some exciting announcements to be released in the upcoming weeks. Until then, I hope you enjoy this beautiful weather while staying safe and healthy.

Upcoming Webcast

Next-Generation Sequencing Analysis in VSClinical 
August 12, 2020 | 12:00 PM Eastern

VarSeq is a tertiary analysis platform that allows users to filter and annotate NGS sequencing data to identify clinically relevant variants. Imbedded in VarSeq is VSClinical, which is used for automated germline and somatic variant analysis in accordance with the ACMG and AMP guidelines. This process is based on a variety of functional prediction models, population frequency, and clinical-based annotations... (continued)

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Customer Success

Our customers have published a number of fascinating articles this month! To highlight just a couple:

Analytical Validation of an Error-corrected Ultra-sensitive ctDNA Next-generation Sequencing Assay - Tu Nguyen-Dumont, Jason Steen & Colleagues, Monash Health / Published in BioTechniques

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant that Creates a Premature Stop Codon in CLN6 - Leslie Lyons & Colleagues, University of Missouri / Published in Genes, Genomes & Genetics

Read more about the articles published throughout the month on our blog!

About Golden Helix

Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.