Mutation per base pair per generation (germline mutation)

Value 1E-08 mutation/bp/generation
Organism Human Homo sapiens
Reference 1000 Genomes Project Consortium, Durbin et al., A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28 467(7319):1061-73. abstract & p.1068 left column 5th paragraphPubMed ID20981092
Method P.1062 box 1 2nd paragraph: "Trio project: whole-genome shotgun sequencing at high coverage (average 42×) of two families (one Yoruba from Ibadan, Nigeria (YRI) one of European ancestry in Utah (CEU)), each including two parents and one daughter. Each of the offspring was sequenced using three platforms and by multiple centres."
Comments Abstract: "From the two trios, [investigators] directly estimate the rate of de novo germline base substitution mutations to be approximately 10^-8 per base pair per generation." P.1068 left column 5th paragraph: "Correcting for the fraction of the genome accessible to this analysis provided an estimate of the per generation base pair mutation rate of 1.2×10^-8 and 1.0×10^-8 in the CEU and YRI trios, respectively." See BNID 100414. For mutation per base pair per replication in E. coli see BNID 100263.
Entered by Uri M
ID 105813