Laboratories of Genome Bioinformatics and Genomic
Schulich School of Medicine, The University of Western
Automated Splice site analysis
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.
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