Saturation mapping of MUTYH variant effects using DNA repair reporters
Shelby L. Hemker, Ashley P.L. Marsh, Felicia Hernandez, Elena Glick, Grace Clark, Alyssa Bashir, Krystal Jiang, Jacob Otto Kitzman
The paper maps the functional effects of MUTYH variants using deep mutational scanning and DNA repair reporters, resolving variants of uncertain significance and identifying risk-associated mutations.
The American Journal of Human Genetics · Jul 29, 2025Peer-reviewedGenomics