Genetic variation across human populations : clinical and demographic implications
Abstract/Contents
- Abstract
- Precision medicine offers a vision of medicine where each individual's clinical care is informed by their unique pattern of genetic markers. However, in order to understand the importance of any given genetic marker, it is essential to understand the background patterns of genetic variation in different people and identify the genetic variants which contribute to disease. In this thesis, I use population genetic and statistical approaches to provide insight into these patterns of genetic variation. First, I use genome-wide microarray data to analyze the population history of five metropolitan South American populations. I identify distinct differences in ancestry between the different populations and demonstrate that the Native American ancestry, but not European ancestry, of South American individuals is highly correlated with geography. Second, I analyze the patterns of genetic variation throughout Oceania and demonstrate that clinically important genetic variants occur at varying frequencies throughout the islands, highlighting the importance of understanding the genetic background of all of the different Oceanian populations. Third, I demonstrate that regions of the cardiac myosin protein are enriched for genetic variation seen in cardiomyopathy patients when compared with genetic variation seen in the general population. These results demonstrate the importance of understanding the expected patterns of genetic variation in different populations for the implementation of precision medicine.
Description
| Type of resource | text |
|---|---|
| Form | electronic; electronic resource; remote |
| Extent | 1 online resource. |
| Publication date | 2017 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Associated with | Homburger, Julian |
|---|---|
| Associated with | Stanford University, Department of Genetics. |
| Primary advisor | Ashley, Euan A |
| Primary advisor | Bustamante, Carlos |
| Thesis advisor | Ashley, Euan A |
| Thesis advisor | Bustamante, Carlos |
| Thesis advisor | Montgomery, Stephen, 1979- |
| Thesis advisor | Pritchard, Jonathan D |
| Advisor | Montgomery, Stephen, 1979- |
| Advisor | Pritchard, Jonathan D |
Subjects
| Genre | Theses |
|---|
Bibliographic information
| Statement of responsibility | Julian Homburger. |
|---|---|
| Note | Submitted to the Department of Genetics. |
| Thesis | Thesis (Ph.D.)--Stanford University, 2017. |
| Location | electronic resource |
Access conditions
- Copyright
- © 2017 by Julian Robert Homburger
- License
- This work is licensed under a Creative Commons Attribution 3.0 Unported license (CC BY).
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