QCI Interpret for Hereditary
Overcoming Challenges of CNV Interpretation
660 views
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
Related videos
QCI Interpret for Hereditary
Increasing the efficiency of diagnostic odysseys
Despite rapid cost reductions in sequencing technologies and an...
QCI Interpret for Hereditary
A breakthrough for rare disease: Completing the Clinical exome gap!
In its latest release, QCI Interpret for Hereditary extends its...
QCI Interpret for Hereditary
Shed light on Hereditary Disorders with QCI Interpret
In this webinar, we will demonstrate how QCI Interpret can improve your...
QCI Interpret for Hereditary
Solve Every Hereditary Disorder Case for All Types of Mutations
Despite incredible advances in genomics, the NGS data interpretation workflow...