Variant Interpretation

Catalog description

Online course for genetic counseling students, undergraduate students, graduate students in genetics, medical students, residents, and fellows. Topics include: a review of mechanisms of pathogenicity, phenotype assessment, and technical aspects of variant filtering and prioritization, and gene curation. Attendees will become familiar with the types of evidence to support or refute pathogenicity and the standards in doing so, and will develop skills to critically assess literature and existing databases for variant classification. Non-GC students: Please contact the instructor when you enroll.