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 N_xClinical 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.

 

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.