October Newsletter
Webcast Recap: A User’s Perspective: ACMG Guidelines for CNVs in VSClinical

A User’s Perspective: ACMG Guidelines for CNVs in VSClinical
By Darby Kammeraad 
Field Application Scientist

In our User’s Perspective webcast, our Director of Research, Ph.D. Nathan Fortier provides a history of our front-line efforts to implement these new guidelines and gives a breakdown of their application logic. There was a huge developmental effort spanning the last year to get these guidelines implemented. There was an early collaboration to gain insight from the ClinGen group directly (big thanks to Erin Riggs!) and this developmental focus will be maintained as new standards/guidelines are developed in the future...

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Upcoming VS-CNV Update: CNV Event Reporting with ACMG Guidelines

Upcoming VS-CNV Update: CNV Event Reporting with ACMG Guidelines
By Eli Sward, PhD
Field Application Scientist Manager

Golden Helix is excited to release an upcoming VSClinical feature that allows users to analyze next-generation sequencing (NGS) CNV event reporting with ACMG guidelines. This feature will be the first in the NGS workspace to allow this capability and if you are curious about the functionalities you can get a sneak peek by looking at some of our most recent webcasts. Before we begin to shift our attention to these unique capabilities, I wanted to discuss some features within the VS-CNV caller that allow more robust detection of aneuploidy events...

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Annotate your VarSeq Projects with REVEL

Annotate your VarSeq Projects with REVEL
By Julia Love
Field Application Scientist

Typically, researchers are looking for rare variants in their next generation sequencing datasets. However, most of the nonsynonymous variants have unknown significance because there is an inherent difficulty in validating large numbers of rare variants or even detecting rare variants with high statistical power. In lieu of this issue, computational tools are needed as they accurately predict the pathogenicity of rare variants and find the variants that are the most likely to cause disease…

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CEO Corner
Andreas Scherer, PhD
Over the last two months, we have been informing you about the updates coming soon to VarSeq and VSClinical. In this release, we have focused on the new ACMG guidelines for copy number variant interpretation. We are the first commercial implementation of these guidelines and extremely appreciative of the support received from the ClinGen Working Group. We believe this is a crucial area in Next-Gen Sequencing diagnostics and will continue to improve the software as updates to these guidelines occur. Secondly, we are proud to mention another publication of ours in the COVID-19 space has been published in the Journal of Genetics and Genome Research. If you are interested in reading this, you can find a copy here. We are thankful to have the ability to share how our solutions are being used to study this virus with the scientific community. The year is quickly coming to an end, and we are preparing for an excellent finish - keep us on your radar for a few more exciting announcements before the new year!
Upcoming Webcast

Evaluating Copy Number Variants with VSClinical's New ACMG Guideline Workflow
November 4, 2020 | 12:00 PM EDT

Golden Helix has been in close communication with the publishers of the ACMG guidelines and the ClinGen group to receive expert advice on how to interpret CNVs called on NGS data. These guidelines provide a robust set of rules for interpreting intragenic deletions and duplications, which is summarized into an intricate decision tree that is broken down into 80 distinct criteria. This complexity is further compounded by many important caveats, exceptions, and considerations known to many in the CNV clinical workspace but are not mentioned in the published guidelines. Fortunately, Golden Helix has spent long hours reading the guidelines, watching the webinars, reading the supplementary material, and working with collaborators to develop a comprehensive workflow to guide you through your clinical interpretation of CNVs. Herein, we are excited to cover more details into this novel ACMG CNV guideline interpretation workflow and demonstrate how intuitive this feature can be for your clinical pipeline.

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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.