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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

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Title: A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Authors: Blakes AJM; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, UK., Wai HA; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Davies I; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Moledina HE; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Ruiz A; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Thomas T; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Bunyan D; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Burren CP; Department of Paediatric Endocrinology and Diabetes, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Greenhalgh L; Liverpool Centre for Genomic Medicine, Crown Street, Liverpool, UK., Lees M; North East Thames Regional Genomics Service, Great Ormond Street Hospital, London, UK., Pichini A; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.; Genomics England, Dawson Hall, Charterhouse Square, London, UK., Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK., Taylor Tavares AL; Genomics England, Dawson Hall, Charterhouse Square, London, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, UK., O'Donovan P; Genomics England, Dawson Hall, Charterhouse Square, London, UK., Douglas AGL; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Baralle D; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Lord J; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK. jenny.lord@soton.ac.uk.
Corporate Authors: Genomics England Research Consortium, Splicing and Disease Working Group
Source: Genome medicine [Genome Med] 2022 Jul 26; Vol. 14 (1), pp. 79. Date of Electronic Publication: 2022 Jul 26.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
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  Data: <searchLink fieldCode="AU" term="%22Blakes+AJM%22">Blakes AJM</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Wai+HA%22">Wai HA</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Davies+I%22">Davies I</searchLink>; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Moledina+HE%22">Moledina HE</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Ruiz+A%22">Ruiz A</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+T%22">Thomas T</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Bunyan+D%22">Bunyan D</searchLink>; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+NS%22">Thomas NS</searchLink>; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Paediatric Endocrinology and Diabetes, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Department of Translational Health Sciences, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Greenhalgh+L%22">Greenhalgh L</searchLink>; Liverpool Centre for Genomic Medicine, Crown Street, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Lees+M%22">Lees M</searchLink>; North East Thames Regional Genomics Service, Great Ormond Street Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Pichini+A%22">Pichini A</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.; Genomics England, Dawson Hall, Charterhouse Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+Tavares+AL%22">Taylor Tavares AL</searchLink>; Genomics England, Dawson Hall, Charterhouse Square, London, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22O'Donovan+P%22">O'Donovan P</searchLink>; Genomics England, Dawson Hall, Charterhouse Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Douglas+AGL%22">Douglas AGL</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK. jenny.lord@soton.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2022 Jul 26; Vol. 14 (1), pp. 79. <i>Date of Electronic Publication: </i>2022 Jul 26.
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