Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey, KyungHee Park, Wolfram Höps, Eva Benito, Patrick Hasenfeld, Jan O. Korbel, Medhat Mahmoud, Luis F. Paulin, Shalini N. Jhangiani, Donna Marie Muzny, , 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.
bioRxiv · Oct 2, 2023 · PreprintGenetics