Whole genome approaches to uncover etiology of disease in endangered animals and critically ill humans
Abstract/Contents
- Abstract
- Identification of disease etiology using whole genome data has the potential to promote the health and wellbeing of both humans and other animals. Historically, the cost to generate genomic data has been restrictive. However, advances in genome sequencing technologies have enabled high throughput data generation at a reduced cost. Now genome data is being generated at an unprecedented scale leading to rapid growth in the field of genomics, and as a result is ready for widespread applications in humans and other animals. The overarching goal of the work presented here is to harness the power of next generation sequencing- combining it with refined analysis pathways and novel applications- to advance precision human medicine and promote the integration of genomic data into veterinary and conservation medicine. In the first section of this dissertation, I demonstrate the utility of whole genome sequencing data in population management of critically endangered ex situ living non-human great apes. Using genomic data from these species, I accurately determine kinship, a measure of relatedness used to select appropriate mating pairs, in effort to promote genetic diversity. Additionally, I investigate genetic determinants of two overrepresented disease phenotypes in ex situ living great apes: interstitial myocardial fibrosis in western lowland gorillas and arrhythmogenic right ventricular cardiomyopathy in bonobos. These data suggest that integration of genomic data into population management has the potential to profoundly impact these endangered species. In the second section of this dissertation, I describe the development of an ultra-rapid whole genome sequencing diagnostic test for use in a critical care setting. This protocol took as little as 7 hours and 18 minutes to complete using highly parallel nanopore sequencing, a high-performance cloud compute system, and a custom scheme for variant prioritization. Rapid genetic diagnosis can impact the early clinical decision-making process, enabling clinicians to provide fast and precise medical care. My thesis research has focused on the utility of whole genome sequencing in a variety of medical settings with the aim to promote the health of animals and humans alike.
Description
| Type of resource | text |
|---|---|
| Form | electronic resource; remote; computer; online resource |
| Extent | 1 online resource. |
| Place | California |
| Place | [Stanford, California] |
| Publisher | [Stanford University] |
| Copyright date | 2021; ©2021 |
| Publication date | 2021; 2021 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Gorzynski, John Edward |
|---|---|
| Degree supervisor | Ashley, Euan A |
| Thesis advisor | Ashley, Euan A |
| Thesis advisor | Buckmaster, Paul S |
| Thesis advisor | Bustamante, Carlos |
| Thesis advisor | Montgomery, Stephen, 1979- |
| Thesis advisor | Priest, James |
| Degree committee member | Buckmaster, Paul S |
| Degree committee member | Bustamante, Carlos |
| Degree committee member | Montgomery, Stephen, 1979- |
| Degree committee member | Priest, James |
| Associated with | Stanford University, Department of Genetics |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | John Edward Gorzynski. |
|---|---|
| Note | Submitted to the Department of Genetics. |
| Thesis | Thesis Ph.D. Stanford University 2021. |
| Location | https://purl.stanford.edu/ws107qj0089 |
Access conditions
- Copyright
- © 2021 by John Edward Gorzynski
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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