Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC.
Showpnil IA, et al. Among authors: miller ar.
NPJ Genom Med. 2024 Dec 18;9(1):66. doi: 10.1038/s41525-024-00454-4.
NPJ Genom Med. 2024.
PMID: 39695126
Free PMC article.