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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.
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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An: 35181971
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
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  Data: <searchLink fieldCode="AU" term="%22Driver+HG%22">Driver HG</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Hartley+T%22">Hartley T</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Price+EM%22">Price EM</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Turinsky+AL%22">Turinsky AL</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Buske+OJ%22">Buske OJ</searchLink>; PhenoTips, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Osmond+M%22">Osmond M</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Ramani+AK%22">Ramani AK</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Kirby+E%22">Kirby E</searchLink>; Centre of Genomics and Policy, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Kernohan+KD%22">Kernohan KD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Couse+M%22">Couse M</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Elrick+H%22">Elrick H</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Lu+K%22">Lu K</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Mashouri+P%22">Mashouri P</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Mohan+A%22">Mohan A</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22So+D%22">So D</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Klamann+C%22">Klamann C</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Le+HGBH%22">Le HGBH</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Herscovich+A%22">Herscovich A</searchLink>; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Statia+A%22">Statia A</searchLink>; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Canada+Consortium+CR%22">Canada Consortium CR</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Knoppers+BM%22">Knoppers BM</searchLink>; Centre of Genomics and Policy, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Brudno+M%22">Brudno M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2022 Jun; Vol. 43 (6), pp. 800-811. <i>Date of Electronic Publication: </i>2022 Mar 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1002/humu.24354
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        Text: English
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              Text: 2022 Jun
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