View in EDS

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

Saved in:
Bibliographic Details
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41929299
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Vestito+L%22">Vestito L</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Oquendo+CJ%22">Oquendo CJ</searchLink>; Human Development and Health, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22McGuigan+AE%22">McGuigan AE</searchLink>; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Ho+A%22">Ho A</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Odhams+C%22">Odhams C</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JO%22">Jacobsen JO</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Mehta+S%22">Mehta S</searchLink>; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.; Department of Genomic Medicine, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Reid+E%22">Reid E</searchLink>; Department of Genomic Medicine, University of Cambridge, Cambridge, UK.; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22O'Driscoll+M%22">O'Driscoll M</searchLink>; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Birmingham Health Partners, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Watson+CM%22">Watson CM</searchLink>; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Crinnion+LA%22">Crinnion LA</searchLink>; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Robinson+RL%22">Robinson RL</searchLink>; North East and Yorkshire Genomic Laboratory Hub, St. James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Musgrave+H%22">Musgrave H</searchLink>; Leeds Genomic Medicine Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Martin+RJ%22">Martin RJ</searchLink>; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.<br /><searchLink fieldCode="AU" term="%22James+TP%22">James TP</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Ross+MT%22">Ross MT</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kyritsi+M%22">Kyritsi M</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Carnielli+L%22">Carnielli L</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Walker+N%22">Walker N</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Vucenovic+D%22">Vucenovic D</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Maheswari+U%22">Maheswari U</searchLink>; Medical Genomics Research, Illumina Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+FE%22">Baralle FE</searchLink>; Fondazione Fegato, Area Science Park Basovizza, 34149, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Centre for Human Genetics, University of Oxford, Oxford, UK.; Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Ellingford+JM%22">Ellingford JM</searchLink>; Genomics England, London, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kasperaviciute+D%22">Kasperaviciute D</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Hoa+L%22">Hoa L</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Elgar+G%22">Elgar G</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Brown+MA%22">Brown MA</searchLink>; Genomics England, London, UK.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Human Development and Health, University of Southampton, Southampton, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Mar 23. <i>Date of Electronic Publication: </i>2026 Mar 23.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Preprint
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41929299
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.64898/2026.03.19.26348811
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Lord J
      – PersonEntity:
          Name:
            NameFull: Pagnamenta AT
      – PersonEntity:
          Name:
            NameFull: Vestito L
      – PersonEntity:
          Name:
            NameFull: Walker S
      – PersonEntity:
          Name:
            NameFull: Oquendo CJ
      – PersonEntity:
          Name:
            NameFull: McGuigan AE
      – PersonEntity:
          Name:
            NameFull: Ho A
      – PersonEntity:
          Name:
            NameFull: Odhams C
      – PersonEntity:
          Name:
            NameFull: Jacobsen JO
      – PersonEntity:
          Name:
            NameFull: Mehta S
      – PersonEntity:
          Name:
            NameFull: Reid E
      – PersonEntity:
          Name:
            NameFull: O'Driscoll M
      – PersonEntity:
          Name:
            NameFull: Watson CM
      – PersonEntity:
          Name:
            NameFull: Crinnion LA
      – PersonEntity:
          Name:
            NameFull: Robinson RL
      – PersonEntity:
          Name:
            NameFull: Musgrave H
      – PersonEntity:
          Name:
            NameFull: Martin RJ
      – PersonEntity:
          Name:
            NameFull: James TP
      – PersonEntity:
          Name:
            NameFull: Ross MT
      – PersonEntity:
          Name:
            NameFull: Kyritsi M
      – PersonEntity:
          Name:
            NameFull: Carnielli L
      – PersonEntity:
          Name:
            NameFull: Walker N
      – PersonEntity:
          Name:
            NameFull: Vucenovic D
      – PersonEntity:
          Name:
            NameFull: Maheswari U
      – PersonEntity:
          Name:
            NameFull: Baralle FE
      – PersonEntity:
          Name:
            NameFull: Taylor JC
      – PersonEntity:
          Name:
            NameFull: Ellingford JM
      – PersonEntity:
          Name:
            NameFull: Kasperaviciute D
      – PersonEntity:
          Name:
            NameFull: Hoa L
      – PersonEntity:
          Name:
            NameFull: Elgar G
      – PersonEntity:
          Name:
            NameFull: Brown MA
      – PersonEntity:
          Name:
            NameFull: Smedley D
      – PersonEntity:
          Name:
            NameFull: Baralle D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 23
              M: 03
              Text: 2026 Mar 23
              Type: published
              Y: 2026
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1