Ontology highlight
ABSTRACT:
SUBMITTER: Besenbacher S
PROVIDER: S-EPMC5147774 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
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]