SickKids Hospital's Rare Disease Program is a collection of rare disease studies using a multi-omics approach to improve diagnostic outcomes and gene discovery. The program currently includes the SickKids cohorts from the Gene-STEPS and DECODE(u)R multi-centre studies. Gene-STEPS recruits infants under 12 months of age (n= >100) and their families with new-onset epilepsy or complex febrile seizures. DECODE(u)R recruits pediatric patients (n=>100) suspected of having a rare genetic disease that remain undiagnosed after clinical exome or genome sequencing, as well as their parents. A subset of the cohorts contains HiFi sequencing data and individual level phenotype data including age range, sex, and HPO terms from consented patients and family members. Organization: The Hospital for Sick Children, Toronto, ON, Canada Primary investigator: Christian Marshall Data location: Canada Publication doi: 10.1016/S1474-4422(23)00246-6 Contact info: translational.genomics@sickkids.ca
Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.
SickKids Hospital Rare Disease Program is published on HiFi Solves.