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Resolution of Ring Chromosomes, Robertsonian Translocations, and Complex Structural Variants from Long-Read Sequencing and Telomere-to-telomere Assembly

Yulia Mostovoy,Philip M. Boone,Yongqing Huang,Kiran V. Garimella, Kar-Tong Tan,Bianca E. Russell,Monica Salani, Celine E.F. de Esch, John Lemanski, Benjamin Curall, Jen Hauenstein,Diane Lucente,Tera Bowers, Tim DeSmet,Stacey Gabriel,Cynthia C. Morton,Matthew Meyerson, Alex R. Hastie,James Gusella,Fabiola Quintero-Rivera

The American Journal of Human Genetics（2024）

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Key words
telomere-to-telomere,ring chromosome,Robertsonian translocation,acrocentric p-arm,long-read sequencing,inversion,optical genome mapping
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