Statistical Methods for Next Generation Sequencing Data

Abstract

Statistical genetics is a scientific field concerned with the development of statistical methods for drawing inferences from genetic data. Research in statistical genetics generally involves developing theory or methodology to support research in one of three related areas: population genetics, genetic epidemiology and quantitative genetics. This dissertation is an ensemble of my research work in statistical genetics, including three projects with varying focuses. The first project applies a rare variant region-based test to identify sets of common or rare variants aggregated in and around genes associated with Dravet Syndrome. The second project proposes a score-based test to investigate the association for a set of rare variants and ordinal traits. The third project describes an implement of dimensionality reduction method in genotype data for population inference.