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日益重要的领域。罕见变异可能解释了大部分常见变异无法解释的分层性，并将导致对常见疾病病因学的新见解。越来越多的序列数据正在产生，以调查罕见的变异，然而，这些数据的分析统计方法还处于起步阶段。我们将开发统计方法，通过插补、单倍型检测和选择测序样本，利用全基因组关联数据进行罕见变异分析，并比较罕见变异关联分析的方法。我们还将开发统计方法， 群体结构，并在关联分析中对其进行校正，特别关注罕见变异分析。

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.