ArticleGenetics2003
New explicit expressions for relative frequencies of single-nucleotide polymorphisms with application to statistical inference on population growth.
Article in Genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed.
- Severe bottleneck of ancient Homo populations: insights from computational modeling and relevant fossil evidence.Molecular biology and evolution · 2026Article
- Mapping epigenetic gene variant dynamics: comparative analysis of frequency, functional impact and trait associations in African and European populations.Scientific reports · 2026Article
- Statistical and Evolutionary Analysis of Sequenced DNA from Breast Cancer FFPE Specimens.bioRxiv : the preprint server for biology · 2025Article
- Estimation of demography and mutation rates from one million haploid genomes.American journal of human genetics · 2025Article
- A model of Hill-Robertson interference caused by purifying selection in a nonrecombining genome.Genetics · 2025Article
- Long-term evolution of Streptococcus mitis and Streptococcus pneumoniae leads to higher genetic diversity within rather than between human populations.PLoS genetics · 2024Article
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- cloneRate: fast estimation of single-cell clonal dynamics using coalescent theory.Bioinformatics (Oxford, England) · 2023Article
- Recurrent mutation in the ancestry of a rare variant.Genetics · 2023Article
- Scaling the Discrete-time Wright Fisher model to biobank-scale datasets.bioRxiv : the preprint server for biology · 2023Article
- A class of identifiable phylogenetic birth-death models.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Linkage disequilibrium between rare mutations.Genetics · 2022Article
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- Modes of Selection in Tumors as Reflected by Two Mathematical Models and Site Frequency Spectra.Frontiers in ecology and evolution · 2022Article
- The Impact of Purifying and Background Selection on the Inference of Population History: Problems and Prospects.Molecular biology and evolution · 2021Article
- Article
- Nonparametric coalescent inference of mutation spectrum history and demography.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- The impact of purifying and background selection on the inference of population history: problems and prospects.bioRxiv : the preprint server for biology · 2021Article
- Genetic diversity, demographic history and neo-sex chromosomes in the Critically Endangered Raso lark.Proceedings. Biological sciences · 2020Article
- A Computational Approach for Modeling the Allele Frequency Spectrum of Populations with Arbitrarily Varying Size.Genomics, proteomics & bioinformatics · 2019Article
2 more citing papers are in PubMed but not listed here.
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2 authors.
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Abstract
We present new methodology for calculating sampling distributions of single-nucleotide polymorphism (SNP) frequencies in populations with time-varying size. Our approach is based on deriving analytical expressions for frequencies of SNPs. Analytical expressions allow for computations that are faster and more accurate than Monte Carlo simulations. In contrast to other articles showing analytical formulas for frequencies of SNPs, we derive expressions that contain coefficients that do not explode when the genealogy size increases. We also provide analytical formulas to describe the way in which the ascertainment procedure modifies SNP distributions. Using our methods, we study the power to test the hypothesis of exponential population expansion vs. the hypothesis of evolution with constant population size. We also analyze some of the available SNP data and we compare our results of demographic parameters estimation to those obtained in previous studies in population genetics. The analyzed data seem consistent with the hypothesis of past population growth of modern humans. The analysis of the data also shows a very strong sensitivity of estimated demographic parameters to changes of the model of the ascertainment procedure.
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Registered trials
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.