Date of Award


Document Type


Degree Name

Doctor of Philosophy (PhD)


Healthcare Genetics

Committee Chair/Advisor

Jane DeLuca

Committee Member

Sara Sarasua

Committee Member

Stephanie Davis

Committee Member

Ernest Amankwah


The transcriptome is an oft-studied target in the pursuit to better understand the functional elements of the human genome as part of genomic research. The transcriptome possesses its own unique set of challenges that hamper utilization of RNA-based discoveries and translation into actionable findings. Scientific progress thus far has expanded annotated reference genes for protein-coding and non-coding (nc) regulatory transcripts, yet much of the variation from splicing events or retention of other regions remain an open challenge, especially in children. This dissertation explores the current state of diagnostic and methodological barriers in front of the full unlocking of the transcriptome, and explores potential implications of this research in the context of hospitalized children. This includes the examination of the quality system considerations necessary to expedite the translational use of ncRNA biomarkers, broken down by distinctive subtypes (long ncRNA, small ncRNA, and circular RNA), from research use into clinical diagnostic use. The development of a new method capable of sequencing the healthy pediatric transcriptome, including both coding and non-coding RNA subtypes, is also shared with minimized bias as it does not require amplification of the starting template material. Finally, the exploration of the current state of knowledge for provoked venous thromboembolism (VTE) in hospitalized children, as a consequence of RNA activation of Factor XII to initiate the intrinsic pathway of coagulation, demonstrates the utility for new RNA sequencing methods in healthcare. These explorations of the transcriptome provide the basis for additional ncRNA inclusion in bench science endeavors, diagnostics, and complex disease research.

Author ORCID Identifier 0000-0003-1206-3394

Available for download on Thursday, August 31, 2023