Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation
Ana Cristina Chang-Gonzalez, Eric W. Bell, Carlos G. Vanoye, Eduardo Guadarrama, Reshma R. Desai, Jean‐Marc DeKeyser, Kathryn R. Butcher, Thomas Scott, Charles R. Sanders, Alfred L. George, Kaitlyn V. Ledwitch, Jens Meiler
The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.
bioRxiv · Oct 31, 2025 · PreprintBiophysics