Collaborator: University of Michigan
-
A multiplex assay of variant effect (MAVE) of MSH6 enables accurate, prospective Lynch Syndrome clinical variant interpretation
Presenting Author: Scott Anthony, MD, PhD, University of Michigan
-
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…
-
Application of deep mutational scanning data for MLH1 variant interpretation
Take home points: Investigators found high correlation between DMS functional scoring and clinical classifications wherein variants with abnormal DMS-function were typically classified as pathogenic and normal DMS-function were classified as benign. Improved Lynch Syndrome Interpretation: Integrating DMS data into clinical databases enabled precise assessment of MLH1 missense variants. DMS-guided reclassification for uncertain variants improves genetic…