Webcast Recap: VSClinical: First Commercial Product to Integrate the Updated ACMG Guidelines for CNVs

VSClinical: First Commercial Product to Integrate the Updated ACMG Guidelines for CNVs
By Gabe Rudy
VP of Product & Engineering

It is always a challenge to cover something as new and complex as these guidelines for interpreting CNVs that came out this year in Genetics for Medicine. The guidelines are outlined in the 5 pages in the middle of the paper account for “Table 3”. But just reading that table alone will not prepare you to start interpreting CNVs and selecting from the roughly 80 scoring criteria...

Variant Analysis of Bechet Disease Using VSClinical
By Eli Sward, PhD
Field Application Scientist Manager

VSClinical is a feature to evaluate clinically relevant variants according to the ACMG or AMP guidelines. This feature can also be used to identify if a variant has been observed previously or evaluate a manually inserted variant. Take, for example, the scenario where a colleague is interested to see if you have seen any variants associated with Bechet syndrome, which is a disorder that causes blood vessel inflammation throughout the body...

Controlling Your Preferred Transcripts for Clinical Interpretation
By Julia Love
Field Application Scientist

Your lab is analyzing the DNA of a tissue sample from a patient with small cell lung cancer. The lab technician has imported the patient data into VSClinical to detect clinically relevant variants and evaluate and score these according to the AMP Guidelines, as well as find treatments or potential clinical trials for the patient…

CEO Corner

Our team recently announced the upcoming release of our new VSClinical workflow for the interpretation and reporting of copy number variants in concordance with the updated ACMG guidelines. This new workflow is in complete agreeance with the authors of this paper on how this should look from a software perspective and anticipate this to be released in the coming weeks. We have a busy next couple of months ahead of us, so keep an eye out for more exciting announcements coming from our team! We hope you are staying safe and well.

Recent Webcast

VSClinical: First Commercial Product to Integrate the Updated ACMG Guidelines for CNVs

Earlier this year, a ClinGen working group in collaboration with ACMG, published new guidelines for the interpreting and reporting of CNVs detected by NGS. We at Golden Helix have been hard at work expanding VSClinical to incorporate these new scoring and evaluation criteria for the interpretation and clinical reporting of CNVs alongside small variants in our popular guided workflow for following the ACMG guidelines.

Watch the Recording

Recent Customer Publications

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

MITO-FIND: A Study in 390 Patients to Determine a Diagnostic Strategy for Mitochondrial Disease - Aneal Khan, Marina Kerr & Colleagues, University of Calgary / Published in Molecular Genetics & Metabolism

Pathogenic Somatic Alterations in Advanced HPV-negative Cell Squamous Laryngeal Carcinoma Revealed Via Targeted Next Generation Sequencing - Radke Kaneva & Colleagues, Medical University – Sofia Bulgaria / Published in Genetika

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.