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TitleComputational Verification of Published Human Mutations.
AuthorKamanu, Frederick Kinyua.
Subject Human variation
Subject Relational database
Subject Database development
Subject Mutation verification
Subject Mutation checker
Subject MutRes.
TypeThesis and dissertation
AbstractThe completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. Most human sequence variations are characterized by structural complexity and, are hence, associated with abnormal functional dynamics. This thesis covers the assembly of a computational platform for verifying these variations, based on accurate, published, experimental data.