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

Session:
#5039
Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm
Conference:
ASHG 2025
Authors:
Anthony Scott, Ashley P.L. Marsh, Elena Glick, Felicia Hernandez, Jacob O. Kitzman, Sebastian A. Vishnopolska, Shelby Hemker, Veronica Glaser, Xiaoyan Jia
Collaborators:

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.
Abstract