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Advances in Long-Read Sequencing and Telomere-Totelomere Assembly Enable Breakpoint Discovery in Ring Chromosomes and Rearrangements Involving Acrocentric P-Arms

Yulia Mostovoy, Phillip Boone,Yongqing Huang,Kiran Garimella,Bianca Russell,Monica Salani,Benjamin Currall,Tera Bowers, Tim DeSmet,Stacey Gabriel, James Gusella, Fabiola Quintero-Rivera, Harrison Brand, Michael Talkowski

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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