ArticleAmerican journal of human genetics2022
Estimating the genome-wide mutation rate from thousands of unrelated individuals.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Article
- Advances in haplotype phasing and genotype imputation.Nature reviews. Genetics · 2026Review
- 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
- A model for background selection in non-equilibrium populations.bioRxiv : the preprint server for biology · 2025Article
- Recent Statistical Innovations in Human Genetics.Annals of human genetics · 2025Review
- Fast simulation of identity-by-descent segments.Bulletin of mathematical biology · 2025Article
- Estimating evolutionary and demographic parameters via ARG-derived IBD.PLoS genetics · 2025Article
- A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.Genetics · 2024Article
- A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.medRxiv : the preprint server for health sciences · 2024Article
- Biobank-scale inference of multi-individual identity by descent and gene conversion.American journal of human genetics · 2024Article
- Estimating evolutionary and demographic parameters via ARG-derived IBD.bioRxiv : the preprint server for biology · 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
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Authors and funding
3 authors.
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Abstract
We provide a method for estimating the genome-wide mutation rate from sequence data on unrelated individuals by using segments of identity by descent (IBD). The length of an IBD segment indicates the time to shared ancestor of the segment, and mutations that have occurred since the shared ancestor result in discordances between the two IBD haplotypes. Previous methods for IBD-based estimation of mutation rate have required the use of family data for accurate phasing of the genotypes. This has limited the scope of application of IBD-based mutation rate estimation. Here, we develop an IBD-based method for mutation rate estimation from population data, and we apply it to whole-genome sequence data on 4,166 European American individuals from the TOPMed Framingham Heart Study, 2,996 European American individuals from the TOPMed My Life, Our Future study, and 1,586 African American individuals from the TOPMed Hypertension Genetic Epidemiology Network study. Although mutation rates may differ between populations as a result of genetic factors, demographic factors such as average parental age, and environmental exposures, our results are consistent with equal genome-wide average mutation rates across these three populations. Our overall estimate of the average genome-wide mutation rate per 10
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