Laboratories of  Genome Bioinformatics and Genomic Disorders
Schulich School of Medicine, The University of Western Ontario

Automated Splice site analysis


       Our goal is to predict the effects of sequence changes that alter mRNA splicing in human diseases. We are designing a system to evaluate changes in splice site strength based on information theory-based models of donor and acceptor splice sites. The predicted molecular phenotypes of these mutations can be related to models of exon recognition and ultimately, the severity of disease in patients harboring these mutations.

       We are compiling mutation data for genetic disorders from a wide variety of peer-reviewed sources. These sources include HUGO approved mutation designation in published literature and non-standard mutation description in locus specific databases.

Principal Investigator's contact information: Click here.

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