Physical Sciences and Mathematics Commons^™

Statistical Tools For Assessment Of Spatial Properties Of Mutations Observed Under The Microarray Platform, Bin Luo

Electronic Thesis and Dissertation Repository

Mutations are alterations of the DNA nucleotide sequence of the genome. Analyses of spatial properties of mutations are critical for understanding certain mutational mechanisms relevant to genetic disease, diversity, and evolution. The studies in this thesis focus on two types of mutations: point mutations, i.e., single nucleotide polymorphism (SNP) genotype differences, and mutations in segments, i.e., copy number variations (CNVs). The microarray platform, such as the Mouse Diversity Genotyping Array (MDGA), detects these mutations genome-wide with lower cost compared to whole genome sequencing, and thus is considered for suitability as a screening tool for large populations. Yet it provides observation …