MedSavant: A platform for identifying causal variants from disease sequencing studies (2011)


Human Health


Using the Ontario Genomic’s SPARK award, Dr Budno and Mr Fiume of the University of Toronto have been developing MedSavant, a high-performance software platform for the analysis of DNA data that helps researchers pinpoint the causes of genetic diseases. The platform serves as a repository and search engine for huge volumes of genomic mutations that are being gathered through genome sequencing. It harnesses the information collected from many patients and studies, and provides a flexible interface for organizing data, performing sophisticated analyses, and generating reports. MedSavant continues to be developed with the aim of making genomic analysis powerful yet easy, and making the wealth of genome sequencing data being generated accessible to researchers without informatics backgrounds, including physicians and clinical geneticists.

During the SPARK grant, two beta version of the software have been publically released, and a full release is being developed. MedSavant is currently being deployed for use in leading genomic initiatives, both at the Hospital for Sick Children and as part of the nationwide FORGE consortium for finding the genes involved in rare diseases affecting Canadians. Going forward, MedSavant is expected to become central to the Hospital of Sick Children’s Genome Clinic, a large scale effort to develop the informatics, workflows, as well as ethical and legal frameworks necessary to bring whole-genome sequencing to the bedside.