Extended Data Fig. 4: Inverted duplication of chromosome 1q in one patient.
From: Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
a, A breakpoint-spanning read from PacBio HiFi long-read sequencing of Patient 2 brain DNA identifies the structure of the gain as an inverted duplication of chromosome 1q. b, Optical genome mapping coverage of the breakpoint.
