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Clinical Interpretation of Novel Copy Number Variations

OF THE THESIS Clinical Interpretation of Novel Copy Number Variations by Clifton M. Carey, Jr. Master of Science in Computer Science Washington University in St. Louis, 2011 Research Advisor: Dr. S. Joshua Swamidass Copy Number Variations (CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation. Recent advances in microarray-based genomic hybridization techniques have facilitated CNV analysis as a viable diagnostic technique in the clinic, and several public databases of well-characterized CNVs are being compiled, but a standard for interpreting uncharacterized CNVs has yet to emerge. This thesis examines the clinical interpretation of uncharacterized CNVs as a multiple instance binary classification problem. We analyze the current state of clinical techniques, then present and test a novel, statistical approach to the problem.