Exploiting CpG hypermutability to identify phenotypically significant variation within human protein coding genes
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Ying, Hua; Huttley, Gavin Austin
Description
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]
Collections | ANU Research Publications |
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Date published: | 2011 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/50399 |
Source: | Genome Biology and Evolution |
DOI: | 10.1093/gbe/evr021 |
Access Rights: | Open Access |
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File | Description | Size | Format | Image |
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01_Ying_Exploiting_CpG_hypermutability_2011.pdf | 301.48 kB | Adobe PDF | ||
02_Ying_Exploiting_CpG_hypermutability_2011.pdf | 296.11 kB | Adobe PDF |
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