Detection and validation of genomic structural variation from DNA sequencing data
Abstract/Contents
- Abstract
- The comparison of individual genome sequences is a key task for modern studies of population genetics, genotype-phenotype associations, and genome evolution. The problem is difficult in part because commonly-used DNA sequencing hardware produces reads that are orders of magnitude smaller than the size of a single human chromosome. The detection of large genomic mutations known as structural variants (SVs) from these short sequencing reads has emerged has a particularly challenging problem. Numerous methods targeting this problem have been proposed, but it is difficult to assess their performance on real data since the ground truth is typically unknown. Moreover, complex SVs that escape detection by conventional algorithms are known to exist. We propose here a solution to both the complex SV detection problem and the issue of evaluating accuracy on real data.
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 | 2018; ©2018 |
| Publication date | 2018; 2018 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Arthur, Joseph G |
|---|---|
| Degree supervisor | Wong, Wing Hung |
| Thesis advisor | Wong, Wing Hung |
| Thesis advisor | Palacios Roman, Julia Adela |
| Thesis advisor | Sabatti, Chiara |
| Degree committee member | Palacios Roman, Julia Adela |
| Degree committee member | Sabatti, Chiara |
| Associated with | Stanford University, Department of Statistics. |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | Joseph G. Arthur. |
|---|---|
| Note | Submitted to the Department of Statistics. |
| Thesis | Thesis Ph.D. Stanford University 2018. |
| Location | electronic resource |
Access conditions
- Copyright
- © 2018 by Joseph Glenn Arthur
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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