Laboratories of Human Molecular Genetics and Genomic Disorders

Laboratories of Human Molecular Genetics and Genomic Disorders
Schools of Medicine and Dentistry , University of Western Ontario

Welcome to the Laboratories of Human Molecular Genetics and Genomic Disorders, where we investigate the causes of inherited genetic disease and cancer using original genomic and bioinformatic approaches. The links below describe our research interests and point to our educational materials. Contact the Principal Investigators: click here.


New Resources

: Paper: Predicting severity of haemophilia A and B splicing mutations by information analysis. Haemophilia, 12: 258-262, 2006. PDF; Paper: Determination of Genomic Copy Number by Quantitative microsphere Hybridization. Hum Mut 27:376-386, 2006. PDF; Paper: Distortion of Quantitative Genomic and Expression Hybridization by C_ot-1 DNA: Mitigation of This Effect, Nucl.Acids Res. 33(22): e191, 2005. PDF; Website: Automated splice site analyses: Detection of mutations and polymorphisms. Publication: Hum. Mut. 25:334-342, 2005.; US Patent #6,828,097: Single copy genomic probes and methods of generating same.; US Patent #7,014,997: Chromosome structural abnormality localization with single copy probes.

Ongoing Research topics: Splice site and transcription factor binding site analysis using Information Theory; Single Copy Technology: scFISH and quantitative microsphere hybridization (Also: www.scprobe.info); Cancer Genetics; Uniparental inheritance; Molecular Cytogenetics and Medical Genetics; Molecular Biology and Genetics

Teaching and Education: Course materials and lecture notes; Editorials

Employment Opportunities and Graduate Study

Staff include technologists, postdoctoral scientists, graduate and undergraduate students. We are seeking applications from qualified graduate students and undergraduates, especially those with a background in genomics, bioinformatics, or software development.