학술논문
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Document Type
Academic Journal
Author
Driver HG; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Turinsky AL; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Buske OJ; PhenoTips, The Hospital for Sick Children, Toronto, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Ramani AK; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Kirby E; Centre of Genomics and Policy, McGill University, Montreal, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Elrick H; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Lu K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mashouri P; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mohan A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; So D; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Klamann C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Le HGBH; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Herscovich A; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Marshall CR; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada.; Statia A; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Canada Consortium CR; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Knoppers BM; Centre of Genomics and Policy, McGill University, Montreal, Canada.; Brudno M; PhenoTips, The Hospital for Sick Children, Toronto, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Techna Institute, University Health Network, Toronto, Canada.; Department of Computer Science, University of Toronto, Toronto, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Source
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Subject
Language
English
Abstract
Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs), a significant number remain intractable to diagnostic and discovery efforts. Broad data collection and sharing of information among RD researchers is therefore critical. In 2018, the Care4Rare Canada Consortium launched the project C4R-SOLVE, a subaim of which was to collect, harmonize, and share both retrospective and prospective Canadian clinical and multiomic data. Here, we introduce Genomics4RD, an integrated web-accessible platform to share Canadian phenotypic and multiomic data between researchers, both within Canada and internationally, for the purpose of discovering the mechanisms that cause RDs. Genomics4RD has been designed to standardize data collection and processing, and to help users systematically collect, prioritize, and visualize participant information. Data storage, authorization, and access procedures have been developed in collaboration with policy experts and stakeholders to ensure the trusted and secure access of data by external researchers. The breadth and standardization of data offered by Genomics4RD allows researchers to compare candidate disease genes and variants between participants (i.e., matchmaking) for discovery purposes, while facilitating the development of computational approaches for multiomic data analyses and enabling clinical translation efforts for new genetic technologies in the future.
(© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.)
(© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.)