Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue
Anthony R. Miller, James J. Anderson, Maria Elena Hernandez Gonzalez, Lakshmi P. Rao Venkata, Eileen Stonerock, Lauren Mashburn‐Warren, Allison Daley, Jeffrey A. Leonard, Jonathan Pindrik, Ammar Shaikhouni, Daniel R. Boué, Diana Thomas, Christopher R. Pierson, Adam P. Ostendorf, Elaine R. Mardis, , Tracy A. Bedrosian
This study uses optical genome mapping to detect somatic structural variants in epilepsy brain tissue, revealing variants missed by short-read sequencing and providing insights into their mechanisms.
medRxiv · Apr 27, 2026 · PreprintGenetic & Genomic Medicine