Date of Award


Document Type


Degree Name

Doctor of Philosophy (PhD)


Genetics and Biochemistry

Committee Chair/Advisor

F. Alex Feltus

Committee Member

Emily Casanova

Committee Member

Leigh Anne Clark

Committee Member

Miriam Konkel


Complex diseases and disorders pose a challenge to scientists due to their variable and often inconsistent genetic and environmental underpinnings across affected individuals. Because of this variability, large condition-specific datasets and corresponding analytical tools and approaches are being curated as resources to investigate potential genetic trends in complex diseases and disorders. In this Dissertation, I used DNA- and RNA-based resources to discover polygenic biosignatures associated with Autism Spectrum Disorder (ASD) or uterine cancer. To explore the intersection of small-effect common DNA variants and regulation in ASD, I discovered and analyzed trends in allelic associations at eQTLs within ASD-affected individuals. Association of eQTLs underlying any phenotype brings the genetic variation closer to biochemical mechanism leading to phenotypic expression. Uterine cancer was additionally investigated using gene expression profiles from normal and cancerous uterine tissue samples, from which gene co-expression networks and corresponding gene regulatory networks were built and further studied. The biomarker discoveries discussed here reflect the importance of dry lab resources and the potential they hold for future discovery.

Included in

Genetics Commons



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