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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Rowlands, Charlie F; Taylor, Algy; Rice, Gillian; Whiffin, Nicola; Hall, Hildegard Nikki; Newman, William G; Black, Graeme C M; O'Keefe, Raymond T; Hubbard, Simon; Douglas, Andrew G L; Baralle, Diana; Briggs, Tracy A; Ellingford, Jamie M.
Affiliation
  • Rowlands CF; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic
  • Taylor A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Rice G; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Hall HN; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Newman WG; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic
  • Black GCM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic
  • O'Keefe RT; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Hubbard S; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
  • Douglas AGL; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
  • Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Rd, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
  • Briggs TA; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic
  • Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic
Am J Hum Genet ; 109(2): 210-222, 2022 02 03.
Article in En | MEDLINE | ID: mdl-35065709
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Full text: 1 Database: MEDLINE Main subject: Software / RNA, Messenger / RNA Splicing / Sequence Analysis, RNA / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Humans Language: En Year: 2022 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Software / RNA, Messenger / RNA Splicing / Sequence Analysis, RNA / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Humans Language: En Year: 2022 Type: Article