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The location of DNA breakpoints associated with somatic copy-number alterations in cancer genomes is analyzed, revealing an enrichment of sequences with propensity to adopt G-quadruplex conformation, often near transcription start sites, and a correlation with hypomethylation. The analysis indicates that G4 formation contributes to cancer genome instability.
A dataset of SNPs and indels from the human genome has now been compared to nucleosome occupancy profiles. Indels tend to be less represented around regions occupied by nucleosomes, whereas SNPs are enriched around nucleosomes in bulk but depleted relative to covalently modified histones, giving insight into genome organization and its possible link to variation.