Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
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| Title: | Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. |
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| Authors: | 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: | Human mutation [Hum Mutat] 2022 Jun; Vol. 43 (6), pp. 800-811. Date of Electronic Publication: 2022 Mar 09. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24354 |
