Exploiting CpG hypermutability to identify phenotypically significant variation within human protein coding genes
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]
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|Source:||Genome Biology and Evolution|
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|02_Ying_Exploiting_CpG_hypermutability_2011.pdf||296.11 kB||Adobe PDF||Request a copy|
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