COALESCENT THEORY AND ANALYIS OF DNA POLYMORPHISMS

该建议旨在发展群体遗传理论， 单核苷酸多态性（SNP）数据的统计方法。理论 方法将集中在有效地产生SNP的样本历史上， 基因型使用聚结理论，将导致计算 观察到的SNP模式的概率。统计方法将包括 当SNPs是在小样本的基础上发现时， 样本，并且还将考虑参数θ的估计， 四倍于有效群体大小和突变率的乘积。 将对来自不同人群的SNP谱的差异进行检验。 它将被开发出来，并将与疾病相关的研究。统计 拟议的工作所制定的程序将被纳入计算机 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.