Article

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

2023-09-08

Abstract excerpt

<h4>Summary</h4> The capacity to resolve structural variants (SVs) at sequence resolution in highly repetitive genomic regions has long been intractable. Consequently, the properties, origins, and functional effects of multiple classes of complex rearrangement are unknown. To resolve these challenges, we leveraged recent technical milestones: 1) Oxford-Nanopore (ONT) sequencing; 2) the gapless Telomere-to-Telomer...

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Literature Corpus work: cbec7cf1-9f22-554c-8c04-b9ecbc7429bf
DOI: 10.1101/2023.09.07.555775

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