Document Type

Thesis

Date of Degree

Fall 2016

Degree Name

MS (Master of Science)

Degree In

Biomedical Engineering

First Advisor

Terry A. Braun

Abstract

One of the tools a clinician has in disease diagnosis and treatment is genetic testing. To generate value in genetic testing, the link between genetic variants and disease must be discovered, documented, and shared within the community. Working with two existing genomic variation tools, Kafeen and Cordova, a new set of features referred to as Variant-Curation and Database Instantiation (Variant-CADI) was identified, designed, implemented and integrated into the existing Cordova system to unite data collection, management and distribution into one cohesive tool accessible through user interfaces. This eliminates the user needing specialized knowledge of the underlying implementation, data pipeline or data management to collect desired disease specific genetic variations. Using this tool, new disease-specific variation database instances have been initialized and created as demonstrations of the utility of these applications.

Keywords

Cordova, Disease Specific Genetic Variation, Genetic Variation Database, Kafeen, Variant-CADI, Variation Annotation

Pages

viii, 57

Bibliography

55-57

Copyright

Copyright © 2016 Andrea Rae Hallier

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