A novel analysis pipeline and experimental design for measuring expanded repeat instability
Christopher Smith, Ruban Rex Peter Durairaj, Emma L. Randall, Alys N Aston, Laura Heraty, Waheba Elsayed, Alvaro Murillo, Vincent Dion
Delta plots from targeted long-read data separate repeat instability frequency, expansion bias and change size; a single-clone assay (SCIA) shows FAN1 knockout raises expansion frequency but shrinks expansions.
bioRxiv · Oct 8, 2026 · PreprintNeuroscience✦ In-depth digest