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 M. Lemanski, Benjamin Currall, Jen Hauenstein, Diane E. Lucente, Tera Bowers, Tim DeSmet, Stacey Gabriel, , Michael E. Talkowski
This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.
The American Journal of Human Genetics · Nov 8, 2024Peer-reviewedGenomics