Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
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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