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Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice.

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Title: Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice.
Authors: Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address: emma.wakeling@gosh.nhs.uk., Baptiste R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Rocca C; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, United Kingdom., Hoskins B; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Clarkson C; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, United Kingdom; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Tucci A; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Department of Neurodegenerative Diseases, Institute of Neurology, UCL, London, United Kingdom.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101619. Date of Electronic Publication: 2025 Dec 02.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Wakeling+E%22">Wakeling E</searchLink>; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address: emma.wakeling@gosh.nhs.uk.<br /><searchLink fieldCode="AU" term="%22Baptiste+R%22">Baptiste R</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rocca+C%22">Rocca C</searchLink>; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hoskins+B%22">Hoskins B</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Clarkson+C%22">Clarkson C</searchLink>; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, United Kingdom; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chitty+LS%22">Chitty LS</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Tucci+A%22">Tucci A</searchLink>; Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Department of Neurodegenerative Diseases, Institute of Neurology, UCL, London, United Kingdom.
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              Text: 2026 Jan
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