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

Ying, Hua; Huttley, Gavin Austin


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. Using the phylogeny-based maximum likelihood inference framework, we applied codon...[Show more]

CollectionsANU Research Publications
Date published: 2011
Type: Journal article
Source: Genome Biology and Evolution
DOI: 10.1093/gbe/evr021
Access Rights: Open Access


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