Thesis Topic Details

Topic ID:
3463
Title:
Causal disease mutation identification in whole genome sequencing data
Supervisor:
Joshua Ho
Research Area:
Bioinformatics, Biomedical Engineering, Software Engineering
Associated Staff
Assessor:
Bruno Gaeta
Topic Details
Status:
Active
Type:
Research
Programs:
CS CE BIOM BINF SE
Group Suitable:
No
Industrial:
Yes
Pre-requisites:
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Description:
Whole genome sequencing is now highly cost effective. It is possible to identify sequence or structural variants in the genome of an individual within weeks. This has open up enormous possibilities for personalized genomic medicine and the identification of causal genes of both rare and common diseases. Nonetheless, while a large number of sequence or structural variants can be identified in each individual, it is often difficult to pin-point the disease causing genetic mutation. In this project, we will develop a bioinformatic pipeline to integrate diverse functional genomic data (such as gene expression, chromatin environment, and TF binding) to prioritise likely causal mutations that underlie a disease. This project will involve close collaboration with local and international expert geneticists.
Comments:
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Past Student Reports
 
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