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. |
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| 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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