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Article

Multi-nucleotide de novo Mutations in Humans.

PLoS genetics - 1 Nov 2016

Besenbacher Søren, Sulem Patrick, Helgason Agnar, Helgason Hannes, Kristjansson Helgi, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Magnusson Olafur Th, Thorsteinsdottir Unnur, Masson Gisli, Kong Augustine, Gudbjartsson Daniel F, Stefansson Kari

Abstract excerpt

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...

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Share to DNA Mutational Analysis
Share to Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to INDEL Mutation

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Share to Polymorphism, Single Nucleotide

Share to Recombination, Genetic

Source

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Identifiers

PMID: 27846220
DOI: 10.1371/journal.pgen.1006315
PMCID: PMC5147774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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