Some statistical improvements for estimating population size and mutation rate from segregating sites in DNA sequences.
In population genetics, under a neutral Wright-Fisher model, the scaling parameter straight theta=4Nmu represents twice the average number of new mutants per generation. The effective population size is N and mu is the mutation rate per sequence per generation. Watterson proposed a consistent estimator of this parameter based on the number of segregating sites in a sample of nucleotide sequences. We study the distribution of the Watterson estimator. Enlarging the size of the sample, we asymptotically set a Central Limit Theorem for the Watterson estimator. This exhibits asymptotic normality with a slow rate of convergence. We then prove the asymptotic efficiency of this estimator. In the second part, we illustrate the slow rate of convergence found in the Central Limit Theorem. To this end, by studying the confidence intervals, we show that the asymptotic Gaussian distribution is not a good approximation for the Watterson estimator.
Klein
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EK
Laboratoire Evolution et Systématique, URA 2154, Université Paris XI, Bâtiment 362, Orsay Cedex, F-91405, France.
Austerlitz
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Larédo
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D001483:Base Sequence / Q000235:genetics*; D020090:Chromosome Segregation / Q000235:genetics*; D003198:Computer Simulation; D003627:Data Interpretation, Statistical; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics*; D016011:Normal Distribution; D010375:Pedigree; D010802:Phylogeny; D011110:Polymorphism, Genetic / Q000235:genetics*; D011156:Population Density; D015203:Reproducibility of Results; D013269:Stochastic Processes