Strategies for deciphering the genome

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2014-12

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Abstract

The development of highly sophisticated technologies has ushered in the era of the genome. Most importantly, high-throughput sequencing technologies has vastly expanded the number of available genome projects of many different organisms. One of challenges that we now face is in understanding the information encoded within these genomes. Within each chapter of this dissertation, information from existing genome projects are used to answer fundamental biological questions related to human disease and an attempt to further advance new technologies is made. In chapter 2, I describe a novel method that decreases the error rates associated with next-generation sequencing technologies, allowing for the investigation of more complex and heterogenous samples relevant to many biological systems. In chapter 3, I use available primate genome projects to understand the evolutionary trajectory of two DNA repair genes, whose defect increases the development of breast and ovarian cancers. Finally, in chapter 4, wild-type primate alleles are used as tools to uncover novel mechanisms in the lifecycle of viruses. Although seemingly non-overlapping, each of these studies is centered around using the sea of information that is now readily available in order to decipher the many secrets encoded by genome.

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