Identification of copy number variation biomarkers in patients with inflammatory bowel disease

Copy number variations (CNVs) are an important type of structural variation affecting pathogenesis of complex diseases, such as inflammatory bowel disease (IBD). Accurate detection of genomic regions with CNVs is crucial for understanding the etiology of IBD, as these regions contain likely drivers of disease development. Microarray technology provides single-nucleotide resolution genomic data and is considered one of the best measurement technologies to detect CNVs. This project will identify and characterize CNV in 340 IBD patients in Manitoba. It is expected that the novel CNV risk loci identified from the genome-wide analysis can explain a significant part of heritability in IBD, which can be translated into clinical applications for diagnostics in Health Sciences Centre Foundation, Winnipeg, Manitoba.

Svetlana Frenkel
Faculty Supervisor: 
Pingzhao Hu
Partner University: