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.

Attend this webinar, and you will learn:

About the 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
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
How QCI Interpret has new CNV classification functionalities following the new ACMG/ClinGen guidelines for the interpretation and reporting of constitutional CNVs

About the speaker

Martin Jones, Ph.D., Scientific Product Owner

QIAGEN Digital Insights

Dr. Martin Jones is the Global Product Owner for clinical decision support software and interpretation services at QIAGEN Digital Insights. He is a precision oncology expert with extensive experience in clinically applied and cohort multi-omic analysis with a strong background in personalized medicine and functional genomics. Prior to joining QIAGEN, Dr. Jones led the clinical interpretation and communication team at the Michael Smith Genome Sciences Centre in Canada. In this role, Dr. Jones was responsible for personalized oncogenomics, as well as providing the genomic analysis of metastatic disease, including whole genome sequencing, tumor/normal, RNAseg tumor- and oncology-specific panels. Dr. Jones earned his Ph.D. in molecular biology and biochemistry from the Simon Fraser University in Canada and was a post-doctoral fellow at the University of British Columbia.

Dan Richards, Ph.D., Vice President, Global Clinical Product Management

QIAGEN Digital Insights

Dr. Dan Richards is Vice President, Global Clinical Product Management, Digital Insights at QIAGEN where he focuses on the automated interpretation of molecular variation in the context of current clinical evidence. Dan earned his Ph.D. in human Genetics from Stanford University and co-founded Ingenuity Systems whose analysis applications and manually curated knowledge base of peer-reviewed scientific evidence are used by scientists worldwide to interpret genomic data in the context of current biomedical knowledge.