Panel Presentation: Overcoming Challenges of Copy Number Variant Interpretation with QCI Interpret and the ACMG Guidelines for CNVs

Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in size from tens of bases to megabases and are an important source of both normal and pathogenic genomic variation. However, CNV interpretation requires collecting and evaluating multiple types of evidence from many sources, which has posed challenges for consistent, high quality clinical interpretation of CNVs. 

In this webinar, we will introduce a genomic variant analysis, interpretation and reporting solution that is being used by major labs and population health programs around the world. QCI Interpret is clinical decision support software that accelerates variant interpretation and reporting by automating curation workflows, dynamically computing variant classifications according to professional guidelines, and generating customized, patient-specific reports. The recent update of QCI Interpret further supports the interpretation and reporting of CNVs. Over 60,000 expert-curated CNV literature references have been added to QCI Interpret that the software can use among other evidence for interpretation, including generating auto-classifications of CNV pathogenicity with full transparency using the new ACMG/ClinGen CNV guidelines for hereditary workflows. 

Learning Objectives:

1. Discuss new CNV features and content in QCI Interpret, including how the software computes CNV pathogenicity and improves handling of CNVs and splice variants at the imprecise exon- and precise breakpoint-levels.

2. Explain how QCI Interpret helps you quickly evaluate your CNVs to determine if same/similar CNVs have been observed in clinical cases or as common genetic variants.

3. Explain how QCI Interpret has new CNV classification functionalities following the new ACMG/ClinGen guidelines for the interpretation and reporting of constitutional CNVs.