Estimating effective population size or mutation rate using the frequencies of mutations of various classes in a sample of DNA sequences.

摘要: Mutations resulting in segregating sites of a sample DNA sequences can be classified by size and type the frequencies mutations different sizes types inferred from sample. A framework for estimating essential parameter theta = 4Nu utilizing various is developed this paper, where N effective population mu mutation rate per sequence generation. The combination coalescent theory, general linear model Monte-Carlo integration, which leads to two new estimators xi eta as well Watterson's estimator K Tajima's tau. greatest strength that it used under variety models. properties four K, tau, are investigated three important models: neutral Wright-Fisher model, with recombination Wright's finite-islands model. Under all these models, shown best among even when or migration has estimated. variance close lower bound variances unbiased suggests very efficient estimator.