Session # 5039F

A comprehensive, clinically calibrated MAVE (multiplex assay of variant effect) for the human MutLɑ complex genes MLH1 and PMS2

Presenting Author: Sebastian A. Vishnopolska, PhD, University of Michigan

Take home point: 

• We're presenting MSH6 and MLH1/PMS2 at ASHG. We've already published the MSH2 MAVE, so this body of work represents almost the complete dataset for the 4 predominant Lynch syndrome genes (MSH2/MSH6 and MLH1/PMS2).
• A comprehensive, clinically calibrated MAVE (multiplex assay of variant effect) for the human MutLɑ complex genes MLH1 and PMS2.

• Authors: Sebastian A. Vishnopolska; Ashley P.L. Marsh; Felicia Hernandez; Xiaoyan Jia; Shelby Hemker; Elena Glick; Veronica Glaser; Anthony Scott; Jacob O. Kitzman
• Collaborators: University of Michigan
• Conference: ASHG 2025
• Date: Friday, Oct 17, 2025 2:30pm - 4:30pm