Physical Sciences and Mathematics Commons^™

Statistical Methods For Detecting Causal Rare Variants And Analyzing Multiple Phenotypes, Xinlan Yang

Dissertations, Master's Theses and Master's Reports

This dissertation includes two papers with each distributed in one chapter. To date, genome-wide association studies (GWAS) have identified a large number of common variants that are associated with complex diseases successfully. However, the common variants identified by GWAS only account for a small proportion of trait heritability. Many studies showed that rare variants could explain parts of the missing heritability. Since the well-developed common variant detecting methods are underpowered for rare variant association tests unless sample sizes or effect sizes are very large, investigation the roles of rare variants in complex diseases presents substantial challenges. In chapter 1, we …

Joint Analysis Of Multiple Phenotypes In Association Studies, Xiaoyu Liang

Dissertations, Master's Theses and Master's Reports

Genome-wide association studies (GWAS) have become a very effective research tool to identify genetic variants of underlying various complex diseases. In spite of the success of GWAS in identifying thousands of reproducible associations between genetic variants and complex disease, in general, the association between genetic variants and a single phenotype is usually weak. It is increasingly recognized that joint analysis of multiple phenotypes can be potentially more powerful than the univariate analysis, and can shed new light on underlying biological mechanisms of complex diseases. Therefore, developing statistical methods to test for genetic association with multiple phenotypes has become increasingly important. …

Statistical Methods For Analyzing Multivariate Phenotypes And Detecting Rare Variant Associations, Huanhuan Zhu

Dissertations, Master's Theses and Master's Reports

This dissertation includes four papers with each distributed in one chapter.

In chapter 1, I compared the performance of eight multivariate phenotype association tests. The motivation to conduct this power comparison paper is as follows. For nearly 15 years, genome-wide association studies (GWAS) have been widely used to identify genetic variants associated with human diseases and traits. GWAS typically investigate genetic variants for a predefined phenotype, thus fail to identify weak but important effects. In recent years, many multivariate association tests have been developed. However, there is a lack of comprehensive summary of such kinds of approaches. To fill this …