Article
Hypermutable non-synonymous sites are under stronger negative selection.
PLoS genetics - 1 Nov 2008
Schmidt Steffen, Gerasimova Anna, Kondrashov Fyodor A, Adzhubei Ivan A, Adzuhbei Ivan A, Kondrashov Alexey S, Sunyaev Shamil
Abstract excerpt
Mutation rate varies greatly between nucleotide sites of the human genome and depends both on the global genomic location and the local sequence context of a site. In particular, CpG context elevates the mutation rate by an order of magnitude. Mutations also vary widely in their effect on the molecular function, phenotype, and fitness. Independence of the probability of occurrence of a new mutation's effect has...
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