Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du…·Claudia M.B. Carvalho
The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.