Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation of copy number variation (CNV) from microarray data in cytogenetics or molecular genetics labs.
Amber Boys, Senior Medical Scientist in the Division of Genetics and Genomics at the Victorian Clinical Genetics Services (VCGS), Melbourne
At Victorian Clinical Genetics Services, we are using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) published Technical Standards for the Interpretation and Reporting of Constitutional Copy-Number Variants (Riggs et al., 2019). BioDiscovery has released NxClinical v6.1 which includes an integrated ACMG guidelines scoreboard feature in the variant details tab. This scoreboard feature is based on the ACMG/AMP technical standard and ClinGen Pathogenicity Calculator, however, the integrated feature of the software presents the user with a “running head start” in their classification of CNV events as the scoreboard is able to auto-populate parts of the calculator such as section 1, section 2 (if applicable), and section 3. This has improved the speed and traceability of our curation whilst applying the technical standard.