Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

• DOI: 10.1038/ncomms8256
• Publication Date: 2015-06-01T10:19:41Z
• Authors: Alexej Abyzov; Shantao Li; Daniel Rhee Kim; Marghoob Mohiyuddin; Adrian M. Stütz; Nicholas F. Parrish; Xinmeng Jasmine Mu; Wyatt Clark; Ken Chen; Matthew Hurles; Jan O. Korbel; Hugo Y. K. Lam; Charles Lee; Mark B. Gerstein
• Keywords: Breakpoint

Investigating genomic structural variants at basepair resolution is crucial for understanding their formation mechanisms. We identify and analyse 8,943 deletion breakpoints in 1,092 samples from the 1000 Genomes Project. find have more nearby SNPs indels than average, likely a consequence of relaxed selection. By investigating correlation with DNA methylation, Hi–C interactions, histone marks substitution patterns nucleotides near them, we that signature non-allelic homologous recombination (NAHR) are associated open chromatin. hypothesize some NAHR deletions occur without replication cell division, embryonic germline cells. In contrast, non-homologous (NH) mechanisms often sequence microinsertions, templated later replicating sites, spaced two characteristic distances breakpoint. These microinsertions consistent template-switching events suggest particular spatiotemporal configuration during events. Structural variation major source complexity human genome. Here Abyzov et al.present identification, classification analysis large database giving an insight into generating them.