Identifying cell types and cellular contexts relevant for complex traits
Abstract/Contents
- Abstract
- We now know of many thousand genetic mutations associated with human phenotypes, and yet the process of translating this information into an understanding of biology has lagged. A crucial step forward is to identify trait-relevant cellular states or contexts, which when disrupted have a significant effect on a phenotype. With knowledge of the specific pathological contexts, one can develop model systems required for in-depth mechanistic study and further biological insights. Thus, in this thesis I investigated approaches of aggregating the many effects of variants associated with gene expression regulatory networks to identify trait-relevant cell types and cellular contexts. Through this work I demonstrate that to realize the lofty -- albeit achievable -- goals of human genetics, we must rethink strategies of producing biological knowledge from genetic studies.
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 | 2019; ©2019 |
| Publication date | 2019; 2019 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Calderon, Diego |
|---|---|
| Degree supervisor | Pritchard, Jonathan D |
| Thesis advisor | Pritchard, Jonathan D |
| Thesis advisor | Greenleaf, William James |
| Thesis advisor | Kundaje, Anshul, 1980- |
| Degree committee member | Greenleaf, William James |
| Degree committee member | Kundaje, Anshul, 1980- |
| Associated with | Stanford University, Department of Biomedical Informatics. |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | Diego Calderon. |
|---|---|
| Note | Submitted to the Department of Biomedical Informatics. |
| Thesis | Thesis Ph.D. Stanford University 2019. |
| Location | electronic resource |
Access conditions
- Copyright
- © 2019 by Diego Calderon
- License
- This work is licensed under a Creative Commons Attribution Non Commercial No Derivatives 3.0 Unported license (CC BY-NC-ND).
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