ArticlePhilosophical transactions of the Royal Society of London. Series B, Biological sciences2000
Allele age and a test for selection on rare alleles.
Article in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Allele age estimators designed for whole-genome datasets show only a moderate reduction in performance when applied to whole-exome datasets.G3 (Bethesda, Md.) · 2025Article
- Article
- Recurrent mutation in the ancestry of a rare variant.Genetics · 2023Article
- Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease ModelJournal of clinical research in pediatric endocrinology · 2022Article
- Controlling for Variable Transposition Rate with an Age-Adjusted Site Frequency Spectrum.Genome biology and evolution · 2022Article
- Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure.Proceedings. Biological sciences · 2019Article
- Estimating the Ages of Selection Signals from Different Epochs in Human History.Molecular biology and evolution · 2016Article
- A hidden Markov model for investigating recent positive selection through haplotype structure.Theoretical population biology · 2015Article
- Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance.BMC genomics · 2014Article
- Theory and applications of a deterministic approximation to the coalescent model.Theoretical population biology · 2014Article
- Article
- The influence of genomic context on mutation patterns in the human genome inferred from rare variants.Genome research · 2013Article
- Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.Molecular vision · 2007Article
- Is the Ala12 variant of the PPARG gene an "unthrifty allele"?Journal of medical genetics · 2005Article
- Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim.American journal of human genetics · 2003Article
- The use of intraallelic variability for testing neutrality and estimating population growth rate.Genetics · 2001Article
- Complex genetic diseases: controversy over the Croesus code.Genome biology · 2001Article
- Frequencies of single-nucleotide polymorphisms and mutations in the BRCA1 gene in patients with hereditary breast or ovarian cancer.Doklady biological sciences : proceedings of the Academy of Sciences of the USSR, Biological sciences sectionsArticle
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1 author.
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Abstract
An approximate expression for the probability distribution of the age of a neutral allele as a function of its frequency is derived for a population undergoing arbitrary changes in population size. A simple maximum-likelihood estimator of allele age based on frequency is also obtained. The distribution of allele age, combined with a model predicting the extent of intra-allelic variability generated by mutation and recombination, leads to a statistical test of whether a rare allele has experienced natural selection. The test is based on finding whether there is too little or too much intra-allelic variability to be consistent with the observed frequency. The test is applied to the locus, BRCA1, associated with early-onset breast cancer in humans and shows that two common disease-associated alleles (5382insC and 185delAG) appear to have been subject to natural selection.
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