EducateNext: ClassifiLIVE

ClassifiLIVE is a one-hour session that utilizes case-based learning to demonstrate how germline variants are classified in the diagnostic laboratory setting. Each session starts with a brief orientation to an ACMG-based variant classification framework. Three complex cases are selected to exemplify how clinical, computational, and functional data are assessed and then integrated to classify a variant. Cases are presented by a genomic sciences team member and then discussed amongst a panel of PhD scientists and laboratory directors. The session concludes with 10 minutes of Q&A.

Level of Instruction: Intermediate

Learning Objectives:​

Apply an ACMG based evidence framework to the clinical interpretation of germline variants​

Identify disease and gene-specific considerations when classifying germline variants​

Explain the relationship between gene-disease validity and variant classification