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

Quintero‐Rivera, Fabiola; Mostovoy, Yulia; Boone, Philip; Huang, Steve S.; Garimella, Kiran; Martínez‐Agosto, Julian A.; Russell, Bianca; Bowers, Tera; Smet, Tim De; Gabriel, Stacey; Gusella, James F.; Brand, Harrison; Talkowski, Michael E.

doi:10.1016/j.gimo.2023.100460

Genetics in Medicine Open

2023

DOI: 10.1016/j.gimo.2023.100460

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

Fabiola Quintero‐Rivera¹,

Yulia Mostovoy²,

Philip Boone³

et al.

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

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