High burden of private mutations due to explosive human population growth and purifying selection

BMC Genomics

Table 2 The mean and standard deviation of the burden of private mutations across individuals.

Group	The Burden of Private Mutations
Constant Population Size Model	0.208% (0.299%)
European History with Two Bottlenecks	0.276% (0.352%)
European History with Recent Growth	0.736% (0.614%)
NR Data	0.758% (0.852%)

The burden of private mutations and the standard deviation of the sample for three demographic models and the NR data. The results correspond to n = 492, the sample size of the NR data less one, as they are based on the individuals from that dataset. These results are not based on randomized chromosomes, but rather on the actual genotype information for each individual in turn. For the three demographic models, sequences were simulated with the same number of SNVs as in the NR data (Methods). The number in parenthesis denotes the standard deviation of the sample. These large standard deviations suggest a significant variation in percentage of private mutations across individuals when the small number of SNVs from the NR dataset is considered.

ISSN: 1471-2164