Wednesday, April 1, 2026 at 12:00 PM
April 1st, 2026 1.00 AMA PRA Category 1 Credit Hours
Description
This lecture will cover the basic types of DNA variation (single nucleotide variants, small insertions and deletions, “indels”, structural variants, copy number alterations, methylation) and briefly discuss the fundamental difference between benign polymorphisms and pathogenic mutations. This background will allow for an overview of the ACMG/AMP Guidelines for Germline Variant assessment, first published in 2015, and a demonstration of how to apply this system in assessment of novel genetic variants (SNVs, indels).
Dates and Times
Start: 4/1/2026 12:00 PM
End: 4/1/2026 1:00 PM
Objectives
1)Review the types of DNA variation and understand the difference between polymorphism and mutation
2)Understand the 2015 ACMG/AMP Guidelines for Germline Variant Assessment and observe how they are applied
3)Understand the effect of the ACMG/AMP guidelines for Germline Variant Assessment in improving concordance among clinical genetic testing laboratories
Speakers
Accreditation
The School of Medicine, State University of New York at Stony Brook, is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The School of Medicine, State University of New York at Stony Brook designates this live activity for a maximum of 1.00 AMA PRA Category 1 Credits ™. Physicians should only claim the credit commensurate with the extent of their participation in the activity.
Need help with this Grand Round Session?
Please contact the Grand Round coordinator listed below:
Amy Loughlin
Department: Pathology Department
Phone: (631) 444-3156
Email: amy.loughlin@stonybrookmedicine.edu