Tag Archives: Hospital for Sick Children

Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals...

Do you want to contribute to cutting-edge research in bioinformatics and computational medicine? Are you interested in precision medicine, clinical genomics, solving rare diseases and integrating multiple Omics technologies? Do you enjoy a casual work environment where learning and development ...