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Article

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

Nature communications - 1 Jun 2015

Abyzov Alexej, Li Shantao, Kim Daniel Rhee, Mohiyuddin Marghoob, Stütz Adrian M, Parrish Nicholas F, Mu Xinmeng Jasmine, Clark Wyatt, Chen Ken, Hurles Matthew, Korbel Jan O, Lam Hugo Y K, Lee Charles, Gerstein Mark B

Abstract excerpt

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. We find breakpoints have more nearby SNPs and indels than the genomic average, likely a consequence of relaxed selection. By investigating the correlation of breakpoints with DNA methylation,...

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PMID: 26028266
DOI: 10.1038/ncomms8256
PMCID: PMC4451611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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