Article

Integrative optical genome mapping and long-read sequencing resolve constitutional complex rearrangements at nucleotide resolution

2026-08-28

Abstract excerpt

Complex rearrangements are one of the rarest types of structural variants (SVs) and can be divided into two categories: complex chromosomal rearrangements (CCRs) and complex genomic rearrangements (CGRs). CCRs include structural rearrangements that present at least three breakpoints and show exchange of genetic material between more than two chromosomes and CGRs are rearrangements that present more than one juncti...

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Literature Corpus work: 17f36ef7-6a9e-55e9-b328-ad212376e7cf
DOI: 10.64898/2026.08.27.747510

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