Analysis of rare variants & population structure

项目总结(见说明)： 罕见变异的遗传关联分析是遗传学中一个日益重要的领域。罕见的变异可能解释了普通变异没有解释的大部分可分级性，并将导致对常见疾病病因学的新见解。为了研究罕见的变异，正在产生越来越多的序列数据；然而，分析这些数据的统计方法还处于初级阶段。我们将开发统计方法，通过归因、单倍型测试和样本测序，利用全基因组关联数据进行稀有变异分析，并比较稀有变异关联分析的方法。我们还将开发统计方法来检测 在关联分析中对种群结构进行修正，特别是稀有变异分析。

PROJECT SUMMARY (See instructions): Genetic association analysis of rare variants is an area of growing importance in genetics. Rare variants may explain a large portion of the tieritability that has not been explained by common variants, and will lead to new insights into the aetiology of common diseases. Increasing amounts of sequence data are being generated in order to investigate rare variants; however, statistical methods for analysis of these data are in their infancy. We will develop statistical methodology to leverage genome-wide association data for rare variant analysis through imputation, haplotypic testing and selection of samples for sequencing, and we will compare methods for rare variant association analysis. We will also develop statistical methodology to detect population structure and correct for it in association analysis, with a particular focus on rare variant analysis.