- Library Home /
- Search Collections /
- Open Collections /
- Browse Collections /
- UBC Theses and Dissertations /
- Text based methods for variant prioritization
Open Collections
UBC Theses and Dissertations
UBC Theses and Dissertations
Text based methods for variant prioritization Gottlieb, Michael
Abstract
Despite improvements in sequencing technologies, DNA sequence variant interpretation for rare genetic diseases remains challenging. In a typical workflow for the Treatable Intellectual Disability Endeavor in B.C. (TIDE BC), a geneticist examines variant calls to establish a set of candidate variants that explain a patient's phenotype. Even with a sophisticated computation pipeline for variant prioritization, they may need to consider hundreds of variants. This typically involves literature searches on individual variants to determine how well they explain the reported phenotype, which is a time consuming process. In this work, text analysis based variant prioritization methods are developed and assessed for the capacity to distinguish causal variants within exome analysis results for a reference set of individuals with metabolic disorders.
Item Metadata
Title |
Text based methods for variant prioritization
|
Creator | |
Publisher |
University of British Columbia
|
Date Issued |
2017
|
Description |
Despite improvements in sequencing technologies, DNA sequence variant interpretation for rare genetic diseases remains challenging. In a typical workflow for the Treatable Intellectual Disability Endeavor in B.C. (TIDE BC), a geneticist examines variant calls to establish a set of candidate variants that explain a patient's phenotype. Even with a sophisticated computation pipeline for variant prioritization, they may need to consider hundreds of variants. This typically involves literature searches on individual variants to determine how well they explain the reported phenotype, which is a time consuming process. In this work, text analysis based variant prioritization methods are developed and assessed for the capacity to distinguish causal variants within exome analysis results for a reference set of individuals with metabolic disorders.
|
Genre | |
Type | |
Language |
eng
|
Date Available |
2017-01-21
|
Provider |
Vancouver : University of British Columbia Library
|
Rights |
Attribution-NonCommercial-NoDerivatives 4.0 International
|
DOI |
10.14288/1.0340776
|
URI | |
Degree | |
Program | |
Affiliation | |
Degree Grantor |
University of British Columbia
|
Graduation Date |
2017-02
|
Campus | |
Scholarly Level |
Graduate
|
Rights URI | |
Aggregated Source Repository |
DSpace
|
Item Media
Item Citations and Data
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International