Care4Rare Canada is a collaborative research program led out of the CHEO Research Institute and includes members from 21 academic sites across Canada, all with the focus on improving the diagnostic care of rare genetic disease patients in Canada and around the world. Since its inception in 2011, Care4Rare Canada has enrolled over 2,300 families with unsolved rare diseases and is using cutting-edge multi-omic approaches, new bioinformatics, and global data sharing and collaboration to find diagnoses for families. This collection includes HiFi data from the subset of participants in whom long-read sequencing has been performed. Organisation: CHEO Research Institute Primary Investigator: Kym Boycott Study webpage: www.care4rare.ca Publication doi: 10.1016/j.ajhg.2022.10.002
Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.
Care4Rare Canada - Rare Disease HiFi Data is published on HiFi Solves.