Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Abyzov A, Li S, Kim DR, Mohiyuddin M, Stütz AM, Parrish NF, Mu XJ, Clark W, Chen K, Hurles M, Korbel JO, Lam HY, Lee C, Gerstein MB. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. Nature Communications 2015, 6: 7256. PMID: 26028266, PMCID: PMC4451611, DOI: 10.1038/ncomms8256.Peer-Reviewed Original ResearchConceptsNon-allelic homologous recombinationTemplate-switching eventsGenomic structural variantsDeletion breakpointsHi-C interactionsNon-homologous mechanismsRelaxed selectionGenomic averageHistone marksOpen chromatinGenomic sitesGermline cellsDNA replicationCell divisionDNA methylationHomologous recombinationGenome ProjectStructural variantsBasepair resolutionNearby SNPsMutation mechanismMicroinsertionsBreakpointsChromatinIndels