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Evaluating The Performance Of In Silico Predictive Models On Detecting Splice-Altering Variants, Erica Cayton

Dissertations, Masters Theses, Capstones, and Culminating Projects

As with any complex biological pathway, the splicing process has both advantages and obstacles with respect to the diversity and fidelity of protein production. The potential benefits of being able to produce multiple versions of a gene (isoforms) must be weighed against the additional complexity introduced by the noisy and mechanistically complicated process of splicing. Indeed, research has found that errors in splicing can be implicated in an increasing number of disorders. Variants that cause disease may operate by disrupting splicing; however many of the variants are frequently annotated as disrupting function through a missense mutation, or via an unknown …