O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

Autor: Quintero-Rivera, Fabiola, Mostovoy, Yulia, Boone, Philip, Huang, Steve, Garimella, Kiran, Martinez-Agosto, Julian, Russell, Bianca, Bowers, Tera, De Smet, Tim, Gabriel, Stacey, Gusella, James, Brand, Harrison, Talkowski, Michael
Zdroj: In Genetics in Medicine Open 2023 1(1) Supplement
Databáze: ScienceDirect