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. Author manuscript; available in PMC: 2013 Feb 23.
Published in final edited form as: Nature. 2012 Aug 23;488(7412):471–475. doi: 10.1038/nature11396

Table 2.

Germline mutation rates at CpG and non-CpG sites

Type of mutation N Rate per base per generation

Transition at non-CpG 2489 6.18×10−9
Transition at CpG 855 1.12×10−7
Transversion at non-CpG 1516 3.76×10−9
Transversion at CpG 73 9.59×10−9
All 4933 1.20×10−8

Mutation rates are per generation per base. For non-CpG sites, the effective number of bases examined is taken as 2.583 billion, whereas for CpG sites the number is 48.80 million. These numbers take into account the variation of local coverage in sequencing (Supplementary Information).