Roychoudhury Arindam, Wakeley John
Department of Biostatistics, Columbia University, New York, NY 10032, United States.
Theor Popul Biol. 2010 Sep;78(2):118-22. doi: 10.1016/j.tpb.2010.05.003. Epub 2010 Jun 2.
We show that the number of segregating sites is a sufficient statistic for the scaled mutation parameter (theta) in the limit as the number of sites tends to infinity and there is free recombination between sites. We assume that the mutation parameter at each site tends to zero such than the total mutation parameter (theta) is constant in the limit. Our results show that Watterson's estimator is the maximum likelihood estimator in this case, but that it estimates a composite parameter which is different for different mutation models. Some of our results hold when recombination is limited, because Watterson's estimator is an unbiased, method-of-moments estimator regardless of the recombination rate. The quantity it estimates depends on the details of how mutations occur at each site.
我们证明,当位点数量趋于无穷且位点间存在自由重组时,在极限情况下,分离位点的数量是尺度化突变参数(θ)的一个充分统计量。我们假设每个位点的突变参数趋于零,使得总突变参数(θ)在极限情况下保持恒定。我们的结果表明,在这种情况下,沃特森估计量是最大似然估计量,但它估计的是一个复合参数,该参数在不同的突变模型中有所不同。当重组受到限制时,我们的一些结果仍然成立,因为无论重组率如何,沃特森估计量都是一个无偏的矩估计量。它所估计的量取决于每个位点上突变发生方式的细节。