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Article

Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genes.

Genome biology and evolution - 1 Jan 2011

Ying Hua, Huttley Gavin

Abstract excerpt

The CpG dinucleotide is disproportionately represented in human genetic variation due to the hypermutability of 5-methyl-cytosine (5mC). We exploit this hypermutability and a novel codon substitution model to identify candidate functionally important exonic nucleotides. Population genetic theory suggests that codon positions with high cross-species CpG frequency will derive from stronger purifying selection....

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Identifiers

PMID: 21398426
DOI: 10.1093/gbe/evr021
PMCID: PMC3184784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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