All ETDs from UAB

Advisory Committee Chair

Hemant K Tiwari

Advisory Committee Members

Donna K Arnett

T Mark Beasley

Charles R Katholi

Sadeep Shrestha

Document Type

Dissertation

Date of Award

2011

Degree Name by School

Doctor of Philosophy (PhD) School of Public Health

Abstract

Copy number variation is a significant form of genetic variation that has been shown to influence many traits. However, current methods used to estimate copy number variation are imprecise and prone to errors. This property is demonstrated in a study examining copy number variation in African Americans recruited into the Hypertensive Genetic Epidemiology Network study, and who were genotyped on the Affymetrix 6.0 array. The effect this has on downstream association analyses is explored, an alternative methods are proposed. Finally, a method is proposed that uses linkage disequilibrium between copy number variants and single nucleotide polymorphisms to improve the accuracy of copy number variation calling algorithms. The derivation of the linkage disequilibrium statistic is presented, and its properties are explored. The results of this dissertation will assist copy number variation researchers in future analyses.

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