The detection and interpretation of Copy Number Variants (CNVs) is vital for the clinical evaluation of individuals with a wide range of disorders. Golden Helix has remained at the forefront of CNVs in Next-Gen Sequencing (NGS) data since 2016 with the release of VS-CNV, our solution that allows you to both detect and analyze CNVs directly from NGS data.
Earlier this year, the American College of Medical Genetics and Genomics (ACMG) developed a new set of professional guidelines in collaboration with the Clinical Genome Resource (ClinGen) project , analogous to the guidelines currently in place for SNPs. Over the last several months, our team has been diligently working on a new guided workflow that will allow clinical labs to implement these guidelines consistently and efficiently. This workflow guides the clinician through every step of the CNV interpretation process and is in complete agreeance with the authors of this paper on how this should look from a software perspective.
Using state-of-the-art algorithms, our workflow automatically evaluates a CNV’s impact on a given gene and provides powerful tools for reviewing literature to gather evidence supporting or refuting a gene’s dosage sensitivity. Using our powerful annotation engine, the clinician can quickly determine if a given CNV overlaps common population variations in 1000 Genomes or GnomAD and can quickly identify previously classified variants in both ClinVar and your own internal database. Once the interpretation process is complete, you can generate beautiful and customizable clinical reports using our new MS Word templating system. Along with CNVs, these reports can contain variants scored with our existing VSClinical ACMG guidelines workflow and other supporting NGS summary and QC details. Finally, all evidence associated with evaluated CNVs and genes can be saved to a central database for reuse in future clinical interpretations.
We are looking forward to making this workflow available to our community in the fall. You can expect to see additional information on the release in the coming weeks, including our next webcast, as well as introductory pricing for this workflow which you can find more information on here.