Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
长读长基因组测序能够解析罕见遗传综合征中复杂的基因组重排。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00454-4
Showpnil, Iftekhar A; E Hernandez Gonzalez, Maria; Ramadesikan, Swetha; Marhabaie, Mohammad; Daley, Allison; Dublin-Ryan, Leeran; Pastore, Matthew T; Gurusamy, Umamaheswaran; Hunter, Jesse M; Stone, Brandon S; Bartholomew, Dennis W; Manickam, Kandamurugu; Miller, Anthony R; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C