ArticleNature genetics2012
Estimating the human mutation rate using autozygosity in a founder population.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers.
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Who cites it
123 citing papers in PubMed.
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- Characterization of de novo germline mutations suggests a strong male mutation bias in coppery titi monkeys (Plecturocebus cupreus).Molecular biology and evolution · 2026Article
- Performance of a self-developed panel for biogeographic ancestry inference and dissection of the genetic background of three Tibetan groups.Hereditas · 2025Article
- Recent Insights Into the Evolutionary Genomics of the Critically Endangered Aye-Aye (Daubentonia madagascariensis).American journal of primatology · 2025Review
- Benchmarking and optimization of methods for the detection of identity-by-descent in high-recombiningeLife · 2025Article
- clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.Genomics, proteomics & bioinformatics · 2025Article
- Assessing simulation-based supervised machine learning for demographic parameter inference from genomic data.Heredity · 2025Article
- Article
- Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye (Daubentonia madagascariensis).Molecular biology and evolution · 2025Article
- Characterizing the rates and patterns ofbioRxiv : the preprint server for biology · 2024Article
- HaploSweep: Detecting and Distinguishing Recent Soft and Hard Selective Sweeps through Haplotype Structure.Molecular biology and evolution · 2024Article
- Article
- Variation in mutation, recombination, and transposition rates inGenome research · 2023Article
- An exploration of linkage fine-mapping on sequences from case-control studies.Genetic epidemiology · 2023Article
- MPYS Modulates Fatty Acid Metabolism and Immune Tolerance at Homeostasis Independent of Type I IFNs.Journal of immunology (Baltimore, Md. : 1950) · 2022Article
- Estimating the genome-wide mutation rate from thousands of unrelated individuals.American journal of human genetics · 2022Article
- Analysis of the Whole-Genome Sequences from anGenes · 2022Article
- Host-plant adaptation as a driver of incipient speciation in the fall armyworm (Spodoptera frugiperda).BMC ecology and evolution · 2022Article
- Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.Genome medicine · 2022Article
- De novo mutation rates at the single-mutation resolution in a humanGenome research · 2022Article
63 more citing papers are in PubMed but not listed here.
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13 authors.
Funding
Abstract
Knowledge of the rate and pattern of new mutation is critical to the understanding of human disease and evolution. We used extensive autozygosity in a genealogically well-defined population of Hutterites to estimate the human sequence mutation rate over multiple generations. We sequenced whole genomes from 5 parent-offspring trios and identified 44 segments of autozygosity. Using the number of meioses separating each pair of autozygous alleles and the 72 validated heterozygous single-nucleotide variants (SNVs) from 512 Mb of autozygous DNA, we obtained an SNV mutation rate of 1.20 × 10(-8) (95% confidence interval 0.89-1.43 × 10(-8)) mutations per base pair per generation. The mutation rate for bases within CpG dinucleotides (9.72 × 10(-8)) was 9.5-fold that of non-CpG bases, and there was strong evidence (P = 2.67 × 10(-4)) for a paternal bias in the origin of new mutations (85% paternal). We observed a non-uniform distribution of heterozygous SNVs (both newly identified and known) in the autozygous segments (P = 0.001), which is suggestive of mutational hotspots or sites of long-range gene conversion.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.