Mutation rate

Value 1.28E-08 mutations/site/generation Range: 1.13×10^−8 to 1.43×10^−8 mutations/site/generation
Organism Human Homo sapiens
Reference Rahbari R et al., Timing, rates and spectra of human germline mutation. Nat Genet. 2016 Feb48(2):126-33. doi: 10.1038/ng.3469. p.127 left column top paragraphPubMed ID26656846
Method Abstract: "[Investigators] investigated genome-wide mutation rates and spectra in multi-sibling families."
Comments P.127 left column top paragraph: "Family-specific paternal age effects: [Investigators] sequenced the genomes of three multi-sibling families (Fig. 1). [They] discovered and validated 768 DNMs [de novo mutations] across the three families, with an average of 64 DNMs per child (range of 43–84: Supplementary Table 1). When taking into account genomic regions inaccessible to [their] analyses (Online Methods), the average number of mutations per individual increased to 76.9. This adjusted number of mutations is equivalent to an average mutation rate of 1.28 × 10^−8 (95% confidence interval (CI) = 1.13–1.43 × 10^−8) mutations per nucleotide per generation at a mean paternal age of 29.8 years."
Entered by Uri M
ID 112459