Abstract:
: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.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Besenbacher S,Sulem P,Helgason A,Helgason H,Kristjansson H,Jonasdottir A,Jonasdottir A,Magnusson OT,Thorsteinsdottir U,Masson G,Kong A,Gudbjartsson DF,Stefansson Kdoi
10.1371/journal.pgen.1006315subject
Has Abstractpub_date
2016-11-15 00:00:00pages
e1006315issue
11eissn
1553-7390issn
1553-7404pii
PGENETICS-D-16-00252journal_volume
12pub_type
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