Discovering RNA functions and its use in genetic interpretation

Placeholder Show Content

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
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
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
Genre Text

Bibliographic information

Statement of responsibility Nicole A. Teran.
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).

Also listed in

Loading usage metrics...