GSO marks one-year anniversary
On April 1, 2022, The Hospital for Sick Children (SickKids) and CHEO marked the completion of the first year of a two-year mandate of Genome-wide Sequencing Ontario: a pilot implementation for rare disease diagnostics (GSO). You can learn more about GSO’s progress through its first year and its impact on [...]
Randomization
Beginning April 1st, 2022, trio cases (proband + two parents) will be randomized to receive either exome sequencing or whole genome sequencing. Singleton, Duo, Quad, and Trio cases that do not include both parents will continue to receive exome sequencing. The genetic test report will include information on the type [...]
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Abstract Background: Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic laboratories. We describe the protocol for evaluating a 2-year pilot project, Genome-wide Sequencing Ontario, to offer high-quality clinical genome-wide sequencing [...]