Design and application of methods for curating genetic variation databases

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Ephraim, Sean Stephen
University of Iowa
Annotation; Databases; Prediction; SNPs; Web services; Biomedical Engineering and Bioengineering
thesis / dissertation description
Cordova (Curated Online Reference Database Of Variation Annotations) is an out-of-the-box solution for building and maintaining an online database of genetic variations integrated with population study information and pathogenicity prediction results from popular algorithms. Our primary motivation for developing this system is to aid researchers and clinician-scientists in determining the clinical significance of genetic variations. To achieve this goal, Cordova provides an interface to review and manually or computationally curate genetic variation data as well as share it for clinical diagnostics and the advancement of research.