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Efficient Identification of Disease Causative Mutations with Next Generation Sequencing Technologies


This thesis presents a multi-faceted approach to analyzing large datasets produced by next generation sequencing techniques for the purpose of identifying the genetic causes of disease phenotypes. The focus of the thesis is recessively inherited retinal degeneration disease phenotypes caused by homozygous mutations, although we also demonstrate the identification of the genetic causes of disease in other inheritance patterns. Additionally, we develop a novel custom capture kit that increases analysis throughput and the judicious use of resources. Software to perform each of the analysis techniques, curate a database of findings, as well as to design novel custom capture kits was designed and packaged as a single application with a graphical user interface available across multiple operating system platforms

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