Table 5.
Results of Simulations of Carrier Burden
| Mean Mutations per Founder | Total Founder Mutations | Expected Mean Carrier Burden in Study Sample [95% CI] | Expected Number of Mutations Surviving in Study Sample [95% CI] |
|---|---|---|---|
| Neutral Fitness of Homozygotes | |||
| 1 | 64 | 1.00 [0.63, 1.42] | 24.4 [19, 30] |
| 2 | 128 | 2.00 [1.47, 2.58] | 48.8 [41, 57] |
| 3 | 192 | 3.00 [2.34, 3.71] | 73.1 [63, 83] |
| 5 | 320 | 5.00 [4.14, 5.91] | 121.9 [109, 135] |
| Lethal Fitness of Homozygotes | |||
| 1 | 64 | 0.92 [0.60, 1.28] | 24.4 [19, 30] |
| 2 | 128 | 1.84 [1.37, 2.35] | 48.7 [41, 57] |
| 3 | 192 | 2.77 [2.18, 3.38] | 73.0 [63, 83] |
| 5 | 320 | 4.61 [3.86, 5.40] | 121.7 [109, 135] |
The expected mean carrier burden in the study sample is shown and assumes that each of the 64 founders introduced a specified number of unique mutations (column 1) into the population. Expected mean carrier burden for independently segregating neutral mutations will not change, but expected mean carrier burden for lethal mutations will be reduced from the mean carrier burden in the founders. Expected mean carrier burden is reported to two decimal places of accuracy and might appear as integers because of extremely small errors in our simulations (e.g., the expected mean burden given one mutation per founder is 1.000059). The following abbreviation is used: CI, confidence interval.