Discovering RNA functions and its use in genetic interpretation
Abstract/Contents
- Abstract
- RNA has both genotype and phenotype. The production of RNA, the RNA itself, and the proteins it produces all serve important roles in the maintenance of life. RNA sequencing has allowed us to learn about the biological function and impact on human health of specific RNAs and genetic variants. Motivated by the desire to discover new chromatin-associated RNAs, chapter 2 details a biochemical and computational method to identify interactions between RNA and DNA through a novel hybrid sequencing technique. Chapter 3 focuses on the identification of mostly repetitive centromeric DNA in Xenopus laevis to permit future RNA sequencing studies with the goal of learning about the role of transcription at the centromere. Because RNA serves as a functional read-out of genomic regulatory regions and it contains information that may translate into protein coding differences, chapter 4 shares methods for diagnosing a diverse set of rare diseases from blood RNA sequencing data. Finally, chapter 5 shows that nonsense mediated decay efficiency is stable across individuals and tissues, which is useful for interpreting variants of unknown significance using predictive models or through RNA sequencing of accessible tissues or cell lines. The methods and findings throughout this thesis will allow for future advances in the use of RNA sequencing for discovering biological functions and its use in genetic interpretation.
Description
Type of resource | text |
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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 | Teran, Nicole Alyse |
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Degree supervisor | Montgomery, Stephen, 1979- |
Thesis advisor | Montgomery, Stephen, 1979- |
Thesis advisor | Bassik, Michael |
Thesis advisor | Fire, Andrew Zachary |
Thesis advisor | Vollrath, Doug |
Degree committee member | Bassik, Michael |
Degree committee member | Fire, Andrew Zachary |
Degree committee member | Vollrath, Doug |
Associated with | Stanford University, Department of Genetics |
Subjects
Genre | Theses |
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Genre | Text |
Bibliographic information
Statement of responsibility | Nicole A. Teran. |
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Note | Submitted to the Department of Genetics. |
Thesis | Thesis Ph.D. Stanford University 2021. |
Location | https://purl.stanford.edu/cj882rf6823 |
Access conditions
- Copyright
- © 2021 by Nicole Alyse Teran
- License
- This work is licensed under a Creative Commons Attribution 3.0 Unported license (CC BY).
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