ArticleAmerican journal of human genetics2015
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 92 citations in OpenAlex.
- Article
- DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.Genetic epidemiology · 2026Article
- A sibling study of variation in parental mutation rates.bioRxiv : the preprint server for biology · 2026Article
- Leveraging ancestral recombination graphs for scalable mixed-model analysis of complex traits.Cell genomics · 2026Article
- Article
- Modeling the length distribution of gene conversion tracts in humans from the UK Biobank sequence data.PLoS genetics · 2025Article
- Identity-by-descent segments in large samples.Theoretical population biology · 2025Article
- Estimating gene conversion rates from population data using multi-individual identity by descent.American journal of human genetics · 2025Article
- Insights into non-crossover recombination from long-read sperm sequencing.bioRxiv : the preprint server for biology · 2024Article
- Duplications and Retrogenes Are Numerous and Widespread in Modern Canine Genomic Assemblies.Genome biology and evolution · 2024Article
- Biobank-scale inference of multi-individual identity by descent and gene conversion.American journal of human genetics · 2024Article
- Biobank-scale inference of multi-individual identity by descent and gene conversion.bioRxiv : the preprint server for biology · 2023Article
- Inference of Coalescence Times and Variant Ages Using Convolutional Neural Networks.Molecular biology and evolution · 2023Article
- The rate of de novo structural variation is increased in in vitro-produced offspring and preferentially affects the paternal genome.Genome research · 2023Article
- Developing an evolutionary baseline model for humans: jointly inferring purifying selection with population history.bioRxiv : the preprint server for biology · 2023Article
- Estimating the genome-wide mutation rate from thousands of unrelated individuals.American journal of human genetics · 2022Article
- Identifying rare variants inconsistent with identity-by-descent in population-scale whole-genome sequencing data.Methods in ecology and evolution · 2022Article
- Article
- Molecular Genetic Basis of Hypertrophic Cardiomyopathy.Circulation research · 2021Article
- Widespread signatures of natural selection across human complex traits and functional genomic categories.Nature communications · 2021Article
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
The rate at which human genomes mutate is a central biological parameter that has many implications for our ability to understand demographic and evolutionary phenomena. We present a method for inferring mutation and gene-conversion rates by using the number of sequence differences observed in identical-by-descent (IBD) segments together with a reconstructed model of recent population-size history. This approach is robust to, and can quantify, the presence of substantial genotyping error, as validated in coalescent simulations. We applied the method to 498 trio-phased sequenced Dutch individuals and inferred a point mutation rate of 1.66 × 10(-8) per base per generation and a rate of 1.26 × 10(-9) for <20 bp indels. By quantifying how estimates varied as a function of allele frequency, we inferred the probability that a site is involved in non-crossover gene conversion as 5.99 × 10(-6). We found that recombination does not have observable mutagenic effects after gene conversion is accounted for and that local gene-conversion rates reflect recombination rates. We detected a strong enrichment of recent deleterious variation among mismatching variants found within IBD regions and observed summary statistics of local sharing of IBD segments to closely match previously proposed metrics of background selection; however, we found no significant effects of selection on our mutation-rate estimates. We detected no evidence of strong variation of mutation rates in a number of genomic annotations obtained from several recent studies. Our analysis suggests that a mutation-rate estimate higher than that reported by recent pedigree-based studies should be adopted in the context of DNA-based demographic reconstruction.
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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.