Comprehensive non-invasive prenatal diagnostics for genetic diseases
Abstract/Contents
- Abstract
- We are entering an era where invasive procedures such as amniocentesis for genetic testing are being replaced with non-invasive, safe, earlier-to-detect, and more cost-effective technologies that take advantage of circulating (cell-free) fetal DNA in maternal blood. Currently, the new non-invasive technologies are clinically indicated mainly for aneuploidies, which is only a fraction of genetic diseases indicated for detection by invasive procedures. This thesis focuses on using digital PCR and high throughput sequencing tools, both of which are exponentially decreasing in cost, to achieve new diagnostic capabilities using cell-free DNA. The first portion of the thesis covers using targeted amplicons to diagnose Mendelian diseases and to obtain the fetal fraction—an important measurement for quality control of many genetic tests. The second portion covers sequencing approaches to detect microdeletions greater than 1 Mbp. This was demonstrated by detecting Digeorge syndrome, a relatively common ~3 Mbp deletion that can result in several life threatening health conditions. The final portion covers the whole genome determination of the fetus using either linked targets for inherited diseases or direct sequencing at high coverage for the exome component. Here, de novo mutations are covered with direct sequencing while many other mutations, such as deletions and trinucleotide repeats, can be covered by linked targets. This new toolbelt of techniques, in combination with comprehensive carrier screening, will help to dramatically widen the impact of non-invasive prenatal diagnostics to nearly all genetic diseases.
Description
| Type of resource | text |
|---|---|
| Form | electronic; electronic resource; remote |
| Extent | 1 online resource. |
| Publication date | 2014 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Associated with | Gu, Wei |
|---|---|
| Associated with | Stanford University, Department of Bioengineering. |
| Primary advisor | Quake, Stephen Ronald |
| Thesis advisor | Quake, Stephen Ronald |
| Thesis advisor | Kim, Stuart |
| Thesis advisor | Utz, Paul |
| Advisor | Kim, Stuart |
| Advisor | Utz, Paul |
Subjects
| Genre | Theses |
|---|
Bibliographic information
| Statement of responsibility | Wei Gu. |
|---|---|
| Note | Submitted to the Department of Bioengineering. |
| Thesis | Thesis (Ph.D.)--Stanford University, 2014. |
| Location | electronic resource |
Access conditions
- Copyright
- © 2014 by Wei Gu
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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