Mutation rate (from whole-genome sequencing studies of family trios)

Range ~1×10^−8 to 1.5×10^−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.126 left column 2nd paragraphPubMed ID26656846
Primary Source [5] Michaelson, J.J. et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151, 1431–1442 (2012). doi: 10.1016/j.cell.2012.11.019. [6] Kong, A. et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471–475 (2012). doi: 10.1038/nature11396. [7] Conrad, D.F. et al. Variation in genome-wide mutation rates within and between human families. Nat. Genet. 43, 712–714 (2011). doi: 10.1038/ng.862. [8] Roach, J.C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636–639 (2010). doi: 10.1126/science.1186802. [9] Campbell, C.D. & Eichler, E.E. Properties and rates of germline mutations in humans. Trends Genet. 29, 575–584 (2013). doi: 10.1016/j.tig.2013.04.005.PubMed ID23260136, 22914163, 21666693, 20220176, 23684843
Method P.126 left column 2nd paragraph: "Whole-genome sequencing studies of family trios."
Comments P.126 left column 2nd paragraph: "Knowledge of the rates and mechanisms by which germline mutations arise has diverse applications, from empowering the discovery of the genetic causes of rare disorders [ref 3] to dating critical periods in human evolution [ref 4]. On the basis of whole-genome sequencing studies of family trios, the average generational mutation rate for single-base substitutions in humans has been estimated to be ~1–1.5 × 10^−8 (primary sources)."
Entered by Uri M
ID 112456