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Author Smith, Timothy D. (Timothy David), author

Title Digital curation of genetic variation data : defining and improving a methodology / Timothy D. Smith.

Published [Parkville, Victoria] : University of Melbourne, 2016


Location Call No. Status
 UniM Bund SpC/T  SMITH  2016    NOT FOR LOAN
Physical description xxiv, 487 pages, bound ; 31 cm.
Notes Typescript.
Bibliography Includes bibliographical references (pages 379-415)
Summary Databases of genetic variation are important tools for both medical research and clinical practice. They provide an insight into the frequency of variations occurring within a population and can inform the diagnosis, prognosis and clinical management of a patient. Genetic variation databases provide an easy means of entry into a highly specific set of information that is of tremendous use. The curation of these databases, or the management and transformation of data by a human expert, plays a vital role in this utility. In the course of this thesis, we undertake a structured examination of how the curation of genetic variation databases is described, perceived and practised, and, drawing on the practice of Soft Systems Methodology, build a set of purposeful activity models to model the activity at various stages. From these models, we develop a methodology for curating genetic variation databases for the purpose of providing information that is fit for use for users seeking research-grade data from diagnostic purposes.
Thesis notes Thesis PhD University of Melbourne, Department of Medicine (St. Vincent's) [and] Department of Computing & Information Systems, 2016.
Subject Information storage and retrieval systems -- Genetics.
Human genetics -- Variation -- Data processing.
Genomics -- Methodology
Data libraries.
Data protection.
Digital preservation.
Electronic information resources.
genetic variation data, soft systems methodology, genomics