Long-read Genome Sequencing Resolves Complex Genomic Rearrangements in Rare Genetic Syndromes
Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez,Swetha Ramadesikan,Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan,Matthew T. Pastore, Umamaheswaran Gurusamy,Jesse M. Hunter, Brandon S. Stone,Dennis W. Bartholomew,Kandamurugu Manickam,Anthony R. Miller,Richard K. Wilson, Rolf W. Stottmann,Daniel C. Koboldt NPJ GENOMIC MEDICINE（2024）
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