Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

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Title: Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.
Authors: Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Human Development and Health, University of Southampton, Southampton, UK., Pagnamenta AT; Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Vestito L; William Harvey Research Institute, Queen Mary University of London, London, UK., Walker S; Genomics England, London, UK., Oquendo CJ; Human Development and Health, University of Southampton, Southampton, UK., McGuigan AE; Centre for Human Genetics, University of Oxford, Oxford, UK., Ho A; Genomics England, London, UK., Odhams C; Genomics England, London, UK., Jacobsen JO; William Harvey Research Institute, Queen Mary University of London, London, UK., Mehta S; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Department of Genomic Medicine, University of Cambridge, Cambridge, UK., Reid E; Department of Genomic Medicine, University of Cambridge, Cambridge, UK.; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., O'Driscoll M; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Birmingham Health Partners, University of Birmingham, Birmingham, UK., Watson CM; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK., Crinnion LA; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK., Robinson RL; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK., Musgrave H; Leeds Genomic Medicine Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Martin RJ; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., James TP; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Ross MT; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Kyritsi M; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Carnielli L; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Walker N; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Vucenovic D; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Maheswari U; Medical Genomics Research, Illumina Cambridge, Cambridge, UK., Baralle FE; Fondazione Fegato, Area Science Park Basovizza, 34149, Trieste, Italy., Taylor JC; Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK., Ellingford JM; Genomics England, London, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Kasperaviciute D; Genomics England, London, UK., Hoa L; Genomics England, London, UK., Elgar G; Genomics England, London, UK., Brown MA; Genomics England, London, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Baralle D; Human Development and Health, University of Southampton, Southampton, UK.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 23. Date of Electronic Publication: 2026 Mar 23.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.64898/2026.03.19.26348811