Computational and functional studies on the genomic basis of vertebrate traits
Abstract/Contents
- Abstract
- One of the most profound discoveries of modern science thus far is that the breathtakingly beautiful diversity of form and function in life is encoded by the genome. Despite major advances in genome sequencing and functional testing, there is yet much to learn about how traits are specified by underlying DNA sequence. For vertebrate genomes, linking genotypic variation to phenotypic outcome is especially challenging given that their typical size spans hundreds of megabases to several gigabases in length. In my graduate work, I contributed to efforts addressing this challenge. Each study described in this thesis involved computational analysis of vertebrate genome sequence, either in the form of whole nuclear genome assemblies or of high-throughput short-read sequencing data, to identify candidate regions associated with and hypothesized to control traits of interest. For two of the studies, including my main thesis project described in chapter 6, I also performed functional testing to evaluate the extent to which candidate regions actually contribute to the associated phenotype. Together, the efforts described in this thesis represents genotype-phenotype mapping methods to identify the protein-coding and cis-regulatory sequence basis of disease-related and naturally evolved traits that arose over the last 10s to 10s of millions of years in humans, other placental mammals, and fishes.
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 | 2023; ©2023 |
| Publication date | 2023; 2023 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Chen, Heidi Isabel |
|---|---|
| Degree supervisor | Bejerano, Gill, 1970- |
| Degree supervisor | Kingsley, David M. (David Mark) |
| Thesis advisor | Bejerano, Gill, 1970- |
| Thesis advisor | Kingsley, David M. (David Mark) |
| Thesis advisor | Fuller, Margaret T, 1951- |
| Thesis advisor | Talbot, William S |
| Degree committee member | Fuller, Margaret T, 1951- |
| Degree committee member | Talbot, William S |
| Associated with | Stanford University, School of Medicine |
| Associated with | Stanford University, Department of Developmental Biology |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | Heidi Isabel Chen. |
|---|---|
| Note | Submitted to the Department of Developmental Biology. |
| Thesis | Thesis Ph.D. Stanford University 2023. |
| Location | https://purl.stanford.edu/rz450yg3415 |
Access conditions
- Copyright
- © 2023 by Heidi Isabel Chen
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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