The complexity of genome rearrangement combinatorics under the infinite sites model

Christopher Greenman (Lead Author), Taoyang Wu, Luca Penso Dolfin

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Rearrangements are discrete processes whereby discrete segments of DNA are deleted, replicated and inserted into novel positions. A sequence of such configurations, termed a rearrangement evolution, results in jumbled DNA arrangements, frequently observed in cancer genomes. We introduce a method that allows us to precisely count these different evolutions for a range of processes including breakage-fusion-bridge-cycles, tandem-duplications, inverted-duplications, reversals, transpositions and deletions, showing that the space of rearrangement evolution is superexponential in size. These counts assume the infinite sites model of unique breakpoint usage.
Original languageEnglish
Article number110335
Number of pages14
JournalJournal of Theoretical Biology
Early online date22 May 2020
Publication statusPublished - 21 Sep 2020

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