Linking human genetic variation to population level phenotypic diversity and individual disease susceptibility
Abstract/Contents
- Abstract
- Following major efforts to assemble and annotate the human genome, a present challenge for human genomics is the functional interpretation of genetic variation in human health. This dissertation provides insights to the technical and molecular challenges of interpreting genomic variation, and presents successful case studies leveraging cross-disciplinary approaches. Chapter 2 characterizes gene expression variation and the resulting phenotypic impact in lymphoblastoid cell lines obtained across seven populations from the Human Genome Diversity Project. Chapter 3 clinically interprets an individual patient's cancer genome, identifies a novel putative driver mutation, and proposes a targeted therapeutic route. Chapter 4 explores a non-BRCA multi-generational familial pedigree with early-onset breast cancer and identifies a putative causal mutation. Together, these chapters present attempts to establish new approaches and methods to incorporate and assess the functional impact of genetic variation on human phenotypes and disease.
Description
| Type of resource | text |
|---|---|
| Form | electronic; electronic resource; remote |
| Extent | 1 online resource. |
| Publication date | 2015 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Associated with | Costa, Helio Azevedo |
|---|---|
| Associated with | Stanford University, Department of Genetics. |
| Primary advisor | Bustamante, Carlos |
| Thesis advisor | Bustamante, Carlos |
| Thesis advisor | Altman, Russ |
| Thesis advisor | Ford, James M. (James Matthew) |
| Thesis advisor | Montgomery, Stephen, 1979- |
| Advisor | Altman, Russ |
| Advisor | Ford, James M. (James Matthew) |
| Advisor | Montgomery, Stephen, 1979- |
Subjects
| Genre | Theses |
|---|
Bibliographic information
| Statement of responsibility | Helio Azevedo Costa. |
|---|---|
| Note | Submitted to the Department of Genetics. |
| Thesis | Thesis (Ph.D.)--Stanford University, 2015. |
| Location | electronic resource |
Access conditions
- Copyright
- © 2015 by Helio Azevedo Costa
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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