Open AccessMulti-nucleotide de novo Mutations in Humans
Author(s) -
Søren Besenbacher,
Patrick Sulem,
Agnar Helgason,
Hannes Helgason,
Helgi Kristjansson,
Áslaug Jónasdóttir,
Aðalbjörg Jónasdóttir,
Ólafur Þ. Magnússon,
Unnur Þorsteinsdóttir,
Gísli Másson,
Augustine Kong,
Daníel F. Guðbjartsson,
Kāri Stefánsson
Publication year - 2016
Publication title -
plos genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.587
H-Index - 233
eISSN - 1553-7404
pISSN - 1553-7390
DOI - 10.1371/journal.pgen.1006315
Subject(s) - indel , biology , mutation rate , mutation , genetics , indel mutation , point mutation , genome , single nucleotide polymorphism , gene , genotype
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 are part of a multi-nucleotide mutation (MNM), with 558 (3.1%) of mutations positioned less than 20kb from another mutation in the same individual (median distance of 525bp). The rate of de novo mutations is greater in late replicating regions (p = 8.29 × 10 −19 ) and nearer recombination events (p = 0.0038) than elsewhere in the genome.