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.
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Martin Jones, Ph.D., Scientific Product Owner, QIAGEN Digital Insights