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. |
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| 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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| ISSN: | 1756-994X |
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| DOI: | 10.1186/s13073-022-01087-x |
