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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

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Title: Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Authors: Hou H; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Yuki KE; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada., Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Szuto A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Barnes S; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada., Ramani AK; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Celik A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Braga M; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada., Gloven-Brown M; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada., Stavropoulos DJ; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Bowdin S; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Cohn RD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Scherer SW; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Brudno M; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.; Vector Institute for Artificial Intelligence, Toronto, ON, Canada., Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Stephen Meyn M; Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin, Madison, WI, USA., Shlien A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Dowling JJ; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Wilson MD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada. michael.wilson@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. michael.wilson@sickkids.ca., Kyriakopoulou L; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jul 01; Vol. 10 (1), pp. 51. Date of Electronic Publication: 2025 Jul 01.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Hou+H%22">Hou H</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Yuki+KE%22">Yuki KE</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Szuto+A%22">Szuto A</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Barnes+S%22">Barnes S</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ramani+AK%22">Ramani AK</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Celik+A%22">Celik A</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Braga+M%22">Braga M</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Gloven-Brown+M%22">Gloven-Brown M</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Stavropoulos+DJ%22">Stavropoulos DJ</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Bowdin+S%22">Bowdin S</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Cohn+RD%22">Cohn RD</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mendoza-Londono+R%22">Mendoza-Londono R</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Brudno+M%22">Brudno M</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.; Vector Institute for Artificial Intelligence, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Stephen+Meyn+M%22">Stephen Meyn M</searchLink>; Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin, Madison, WI, USA.<br /><searchLink fieldCode="AU" term="%22Shlien+A%22">Shlien A</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dowling+JJ%22">Dowling JJ</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Wilson+MD%22">Wilson MD</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada. michael.wilson@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. michael.wilson@sickkids.ca.<br /><searchLink fieldCode="AU" term="%22Kyriakopoulou+L%22">Kyriakopoulou L</searchLink>; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Jul 01; Vol. 10 (1), pp. 51. <i>Date of Electronic Publication: </i>2025 Jul 01.
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