Development of an information theory-based mutation detector for a commercial bioinformatics genome server


I have recently developed a piece of software that can be used to interpret the effects of DNA sequence differences in human genomes. The analysis produces results that predict disease mutations. Dr. Rogan’s laboratory has developed approaches of visualizing DNA sequence data, which I will incorporate into this software. I will modify the existing visualization software to run Java and integrate this Java code in to my previously developed mutation detection software. This proposal will also improve the performance of the software I developed. This is important because analysis of large numbers of mutations currently takes many hours on a typical computer server, and the user expects these results more quickly. The software currently analyzes variants that alter gene expression. The capabilities of this software will also be  extended to analyze others types of mutations. This software will allow researchers to focus their efforts on confirming only genetic variants that are most clinically relevant. The commercial partner, Cytognomix, has obtained the IP rights to the patented technology and secured a distributor for the software, once it’s complete.

Faculty Supervisor:

Dr. Robert E. Mercer


Ben Chambers Shirley


Cytochroma Inc.


Computer science


Life sciences


Western University



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