Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME.
Mostovoy Y, et al. Among authors: tan kt.
Am J Hum Genet. 2024 Nov 5:S0002-9297(24)00375-6. doi: 10.1016/j.ajhg.2024.10.006. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 39520989