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Article

Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation.

PLoS computational biology - 29 Feb 2008

Elango Navin, Kim Seong-Ho, Vigoda Eric, Yi Soojin V

Abstract excerpt

Transitions at CpG dinucleotides, referred to as "CpG substitutions", are a major mutational input into vertebrate genomes and a leading cause of human genetic disease. The prevalence of CpG substitutions is due to their mutational origin, which is dependent on DNA methylation. In comparison, other single nucleotide substitutions (for example those occurring at GpC dinucleotides) mainly arise from errors during...

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PMID: 18463707
DOI: 10.1371/journal.pcbi.1000015
PMCID: PMC2265638

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