COALESCENT THEORY AND ANALYIS OF DNA POLYMORPHISMS

这项建议旨在发展种群遗传学理论和 单核苷酸多态性(SNP)数据的统计方法。理论上的 方法的中心将是有效地生成SNP样本的历史 基因分型，并将导致计算 观察到的SNPs模式的概率。统计方法将包括 在小样本的基础上发现SNPs时产生的偏差的处理 样本，还将考虑参数theta的估计，即 是有效种群规模和变异率的四倍。 将对不同人群的SNP图谱差异进行测试 制定并将与疾病关联研究相关。统计数字 拟议工作制定的程序将被合并到计算机中 包装并免费提供。

This proposal aims to develop population genetic theory and statistical methods for single nucleotide polymorphism (SNP) data. Theoretical methods will center on efficient generation of the history of samples of SNP genotypes using coalescent theory, and will lead to calculations of probabilities of observed patterns of SNPs. Statistical methods will include a treatment of the bias introduced when SNPs are discovered on the basis of small samples, and will also consider the estimation of the parameter theta, which is four times the product of the effective population size and the mutation rate. Tests of differences in SNP profiles from different populations will be developed and will be relevant to disease association studies. The statistical procedures developed by the proposed work will be incorporated into a computer package and made freely available.