Pathology - Theses

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A novel depiction of genome variation data

SMITH, TIMOTHY ( 2006)

The use of locus-specific databases for the storage and dispersal of genetic variation data has become the norm. The Human Genome Variation Society (formerly the HUGO Mutation Database Initiative) have led this field and produced a body of work to define standards for online variation databases. While these databases are available for all to access over the internet, they are often difficult to use and, particularly, to understand. Data presentation techniques and “fancy tools”1 for graphically displaying variation data are yet to receive the attention they deserve. This thesis looks at providing a system for use in a locus specific database, as a complement to an existing user interface, to quickly and easily produce graphical conceptual models of variation data in order to improve understanding by the database users.