Dissertation
Protein-coding hotspots in the human genome: annotation, significance, and their conservation in animal models (mouse, fruit fly)
Doctor of Philosophy (Ph.D.), Drexel University
14 Jun 2021
DOI:
https://doi.org/10.17918/00000400
Abstract
Investigating understudied genes that are not yet associated with disease but have common functions with nearby genes that are not in the same gene family can lead towards further understanding these molecular mechanisms and may reveal novel drug targets. Previous studies of utilizing population genetics approaches did not focus on the chromosomal topology of many major diseases on the human genome. Clustering algorithms, augmented for this thesis to run on the linear topology of chromosomes in the human genome, identified the densest clusters with ten or more genes, called hotspots. Performing enrichment analysis of the hotspots finds genes which share a genomic hotspot and significant gene functions to highlight genes that are understudied and/or not yet associated with disease. Methods developed for this thesis include new approaches to comparing functions among a set of genes, even if the genes are in different species; a library for examining gene ontology relationships; and an augmented exploratory literature search using PubMed combined with public access citation data from the National Institute of Health's Open Citation Collection (NIH-OCC).
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Details
- Title
- Protein-coding hotspots in the human genome
- Creators
- D. V. Klopfenstein
- Contributors
- William Nathanial Dampier (Advisor)
- Awarding Institution
- Drexel University
- Degree Awarded
- Doctor of Philosophy (Ph.D.)
- Publisher
- Drexel University; Philadelphia, Pennsylvania
- Number of pages
- xxxii, 264 pages
- Resource Type
- Dissertation
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems (1997-2026); Drexel University
- Other Identifier
- 991015080649504721