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Article

A survey of localized sequence rearrangements in human DNA.

Nucleic acids research - 28 Feb 2018

Frith Martin C, Khan Sofia

Abstract excerpt

Genomes mutate and evolve in ways simple (substitution or deletion of bases) and complex (e.g. chromosome shattering). We do not fully understand what types of complex mutation occur, and we cannot routinely characterize arbitrarily-complex mutations in a high-throughput, genome-wide manner. Long-read DNA sequencing methods (e.g. PacBio, nanopore) are promising for this task, because one read may encompass a...

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Identifiers

PMID: 29272440
DOI: 10.1093/nar/gkx1266
PMCID: PMC5829575

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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