Multi-nucleotide de novo Mutations in Humans.
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ABSTRACT:
SUBMITTER: Besenbacher S
PROVIDER: S-EPMC5147774 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Publications
Multi-nucleotide de novo Mutations in Humans.
Besenbacher Søren S Sulem Patrick P Helgason Agnar A Helgason Hannes H Kristjansson Helgi H Jonasdottir Aslaug A Jonasdottir Adalbjorg A Magnusson Olafur Th OT Thorsteinsdottir Unnur U Masson Gisli G Kong Augustine A Gudbjartsson Daniel F DF Stefansson Kari K
PLoS genetics 20161115 11
Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, corresponding to a mutation rate of 1.29 × 10-8 per position per generation (PPPG) and 1282 indels corresponding to a rate of 9.29 × 10-10 PPPG. We estimate that around 3% of human de novo SNVs ...[more]
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