Historical estimate
A de novo DNA-letter mutation in one human generation
- Probability:
- 1.29 × 10⁻⁶%
- Odds:
- 1 to (7.75 × 10⁷)
- dBan
- −78.9 dBan
A study of 283 Icelandic parent-offspring trios estimated about one new single-nucleotide variant per 77.5 million transmitted positions per generation, a rate of 1.29 × 10⁻⁸.
Calculation
p ≈ 1.29 × 10⁻⁸ per transmitted position per generation
Assumptions
The 95% confidence interval is 1.27–1.30 × 10⁻⁸ after coverage and callability correction. The observed study average was about 63 de novo SNVs per person. Rates vary with parental age and sequence context. This samples one transmitted position, not the chance that a child has any mutation or disease, and it differs from the cell-replication error model.
Sources
- Besenbacher et al. (2016): multi-nucleotide de novo mutations in humans 283 Icelandic parent-offspring trios with 17,812 de novo SNVs, estimating 1.29 × 10⁻⁸ per position per generation