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 December 2020 issue.

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

Written by Andreas Scherer, Ph.D, President and CEO of Golden Helix

https://www.thejournalofprecisionmedicine.com/golden-helixs-recent-release-for-a-new-workflow-for-interpretating-and-reporting-copy-number-variants-in-concordance-with-the-recently-updated-acmg-guidelinesintroduction/

“A copy number variation (CNV) is a type of structural variation in which a large section of the genome is either duplicated or deleted. CNVs account for much of the variation between human genomes, and they are associated with a wide range of disorders. As more disorders associated with CNVs are identified, and as NextGen sequencing is more widely utilized in the clinical setting, tools supporting rapid, accurate, and cost-effective identification and interpretation of CNVs are needed.

Recently, the American College of Medical Genetics and Genomics (ACMG) has developed a new set of CNV interpretation guidelines in collaboration with the Clinical Genome Resource (ClinGen) project,¹ analogous to the guidelines currently in place for small variants. In the time since the release of these guidelines, the Golden Helix team has developed a new automated workflow that enables clinical labs to implement these guidelines consistently and efficiently. This workflow is the first commercial solution supporting the new CNV guidelines to reach the market and has been developed through repeated correspondence with the authors of the original paper…”

To continue reading this article from The Journal of Precision Medicine, please visit https://www.thejournalofprecisionmedicine.com/golden-helixs-recent-release-for-a-new-workflow-for-interpretating-and-reporting-copy-number-variants-in-concordance-with-the-recently-updated-acmg-guidelinesintroduction/.