Date of Award
12-2021
Document Type
Dissertation
Degree Name
Doctor of Philosophy (PhD)
Department
Genetics and Biochemistry
Committee Chair/Advisor
F. Alex Feltus
Committee Member
Emily Casanova
Committee Member
Leigh Anne Clark
Committee Member
Miriam Konkel
Abstract
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.
Recommended Citation
Hickman, Allison, "Identification of Biomarker Systems of Autism Spectrum Disorder and Uterine Cancer" (2021). All Dissertations. 2949.
https://open.clemson.edu/all_dissertations/2949