Developing Stats Methods to Detect Rare Genetics Variants in Human Complex Pedigrees

我们开发了基于系谱的罕见变异分析方法，将每个受影响的亲属视为依赖对，并使用相关矩阵来解释依赖关系。这项工作发表了两篇论文。我们现在正致力于使用基于单倍型的方法来识别精神分裂症、双相情感障碍和强迫症等人类疾病的因果变异。我们已经从dbGap获得了相关的数据集，这将使我们能够比较各种类型的分析方法给出的统计属性（在经验意义上）。

We have developed pedigree-based rare variants analysis approach by treating each affected relatives as dependent pairs and the dependency will be accounted for using correlation matrix. This work led to two publications. We are now working on using a haplotype-based approach to identify causal variants for human diseases such as schizophrenia, bipolar and obsessive compulsive disorder. We have obtained the relevant data sets from dbGap which will allow us to compare the statistical properties (in an empirical sense) given by various types of analytical methods. We have made contribution to a bipolar study in the Plain People in the Amish community, led by Dr. Francis McMahon (Chief, Human Genetics Branch, Intramural Research Program).