Mutation rate per generation

Value 1.1E-08 Mutations/site/generation Range: 6.8E-09 to 1.7E-08 Mutations/site/generation
Organism Human Homo sapiens
Reference Roach et al., Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010 Apr 30 328(5978):636-9. p.637 right column bottom paragraphPubMed ID20220176
Method Whole genome sequencing of parents and their 2 siblings.
Comments Adjusting for the false-negative rate produced an unbiased mutation rate estimate of 1.1×10^-8 per position per haploid genome, corresponding to approximately 70 new mutations in each diploid human genome. Range is 95% confidence intervals. For 1.8E-08 in a study of 20 Mendelian diseases see Kondrashov 2003 PMID 12497628. See BNID 100414, 105813
Entered by Uri M
ID 105919