Electronic Thesis and Dissertation Repository


Master of Science




Dr Kathleen A Hill


Copy number variants (CNVs) are a source of genomic variation associated with altered phenotypes. Somatic copy number mosaicism results when different populations of cells in an individual differ due to de novo copy number changes (CNCs). Tissue-specific patterns of CNCs resulting in mosaicism have yet to be characterized in the mouse, an organism frequently used to model human diseases. Here, DNA was sampled from spleen, liver, and cerebellum of eight highly related mice selected from a familial unit. CNVs and CNCs were detected using the Mouse Diversity Genotyping Array with three computational methods (ConsecN, Partek, and PennCNV). Tissue-specific patterns of CNCs were revealed, including genomic regions of putative recurring CNCs. Genetic distance estimated using CNVs and CNCs recapitulated genealogical relationships. The novel framework can thus be used to identify and analyze tissue-specific CNCs, and the results establish the need to account for CNCs in model organisms.

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Genomics Commons