Article
A bestiary of localized sequence rearrangements in human DNA
2017-08-14
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 whole...
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Identifiers and source
- Literature Corpus work
- 7e6bc115-24e1-5090-871d-ffe41327d954
- DOI
- 10.1101/175943