Article
Polymorphisms involving gain or loss of CpG sites are significantly enriched in trait-associated SNPs.
Oncotarget - 24 Nov 2015
Zhou Dan, Li Zhenli, Yu Dan, Wan Ledong, Zhu Yimin, Lai Maode, Zhang Dandan
Abstract excerpt
Some single nucleotide polymorphisms (SNPs) influence the existence of CpG sites, the basis of DNA modification such as methylation and hydroxymethylation. These polymorphisms can lead to gain or loss of CpG sites and were defined as CpG site related SNPs (cgSNPs) in this study. The cgSNPs change DNA sequence and might potentially affect DNA modification such as methylation. However, the functional consequence of...
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