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 some of our research interests and point to educational materials. Please note that our Facebook page is updated with greater regularity.

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. Please contact us for more information about potential opportunities from qualified candidates.

Ongoing Research topics

Splice site and transcription factor binding site analysis using Information Theory

Single Copy Technology: scFISH, solution capture, and array comparative hybridization  

(these products are available through Cytognomix Inc.)

Cancer Genetics

Uniparental inheritance

Molecular Cytogenetics and Medical Genetics

Molecular Biology and Genetics

Teaching and Education

Biochemistry 4435a: Field Guide to the Human Genome

Course materials and lecture notes

Editorials

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.

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