Welcome to the Department of Medical Genetics

The Department of Medical Genetics provides leadership in clinical, translational and basic research in human genetics and genomics, in undergraduate and graduate education, and members support the provision of clinical and laboratory genetic services for southern Alberta. Clinical services are delivered through the Clinical Genetics Unit and the Inherited Metabolic Disease Clinic in Alberta Health Services, and the three genetic laboratories in Biochemical Genetics, Cytogenetics and Molecular Genetics in Alberta Precision Laboratories. The integrated clinical and laboratory genetic services and research programs provide an exceptional interactive core platform for excellence in education, research and service in Medical Genetics.

Centre for Health Genomics & Informatics

The Centre for Health Genomics and Informatics (CHGI) is a Cumming School of Medicine platform supporting basic research and precision medicine initiatives involving next-generation sequencing (NGS). Originally started as an ACHRI initiative, the CHGI now follows the scientific leadership of Dr. Francois Bernier (Chair and Head of the Department Medical Genetics) and reports to the Office of the Associate Dean Research, CSM.

Researchers need only submit isolated genomic DNA or RNA and CHGI staff will perform quality assessments, library preparations and sequencing (Illumina iSeq, MiSeq, NextSeq and NovaSeq sequencers). A wide variety of NGS applications are supported for amplicon, exome, genome, metagenome, or transcriptome sequencing. The sequencing data files are stored locally for bioinformatic analyses. Very large data storage (petabytes) and a variety of compute infrastructure for bioinformatics is available. This includes a local instance of the Illumina DRAGEN Bio-IT Platform for ultra-rapid secondary analyses and a local Galaxy server for data analysis using open-source software and workflows.

For project planning and other assistance please contact Dr. Paul Gordon (Bioinformatics Specialist) or Shelly Wegener, Lab Manager or visit our website at HealthGenomics.ca.

Centre for Health Genomics and Informatics