Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

Autor: Mostovoy, Yulia, Boone, Philip M., Huang, Yongqing, Garimella, Kiran V., Tan, Kar-Tong, Russell, Bianca E., Salani, Monica, de Esch, Celine E.F., Lemanski, John, Curall, Benjamin, Hauenstein, Jen, Lucente, Diane, Bowers, Tera, DeSmet, Tim, Gabriel, Stacey, Morton, Cynthia C., Meyerson, Matthew, Hastie, Alex R., Gusella, James, Quintero-Rivera, Fabiola, Brand, Harrison, Talkowski, Michael E.
Zdroj: In The American Journal of Human Genetics 5 December 2024 111(12):2693-2706
Databáze: ScienceDirect