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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

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Title: Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Authors: Steyaert W; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Sagath L; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Demidov G; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany., Yépez VA; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany., Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), 08007 Barcelona, Spain., Gagneur J; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Computational Health Center, Helmholtz Center Munich, 85764 Neuherberg, Germany., Ellwanger K; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.; Center for Rare Diseases, University Hospital Tübingen, 72076 Tübingen, Germany., Derks R; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Weiss M; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., den Ouden A; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., van den Heuvel S; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Swinkels H; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Zomer N; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Steehouwer M; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., O'Gorman L; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Astuti G; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Neveling K; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Schüle R; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, 69120 Heidelberg, Germany., Xu J; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Synofzik M; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Beijer D; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Hengel H; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Schöls L; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Claeys KG; Department of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), 3000 Leuven, Belgium., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Selvatici R; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom., Saeed Abd Elmaksoud M; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 5372066, Egypt., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom., Müller J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom., Pini V; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom., Perry L; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom., Zaharieva I; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L1, Canada., Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0PY, United Kingdom., Reid E; Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge CB2 0XY, United Kingdom., Lochmüller H; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, ON K1H 8M8, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, ON K1H 8M5, Canada.; The Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, ON K1Y 4E9, Canada., Spinazzi M; Department of Neurology, Centre Hospitalier Universitaire d'Angers, 49933 Angers, France., Savarese M; Folkhälsan Research Center, 00250 Helsinki, Uusimaa, Finland.; Faculty of Medicine, University of Helsinki, 00014 University of Helsinki, Uusimaa, Finland., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), 08007 Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), 08007 Barcelona, Spain., Brunner HG; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, Netherlands., Graessner H; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.; Center for Rare Diseases, University Hospital Tübingen, 72076 Tübingen, Germany., Beltran S; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), 08028 Barcelona, Spain., Ossowski S; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany., Vissers LELM; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands., Hoischen A; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands; alexander.hoischen@radboudumc.nl.; Radboud University Medical Center, Department of Internal Medicine; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), 6500 HB Nijmegen, Netherlands.
Corporate Authors: Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE, Solve-RD consortium
Source: Genome research [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 755-768. Date of Electronic Publication: 2025 Apr 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Steyaert+W%22">Steyaert W</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Sagath+L%22">Sagath L</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Demidov+G%22">Demidov G</searchLink>; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yépez+VA%22">Yépez VA</searchLink>; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.<br /><searchLink fieldCode="AU" term="%22Esteve-Codina+A%22">Esteve-Codina A</searchLink>; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), 08007 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Gagneur+J%22">Gagneur J</searchLink>; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Computational Health Center, Helmholtz Center Munich, 85764 Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Ellwanger+K%22">Ellwanger K</searchLink>; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.; Center for Rare Diseases, University Hospital Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Derks+R%22">Derks R</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Weiss+M%22">Weiss M</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22den+Ouden+A%22">den Ouden A</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Heuvel+S%22">van den Heuvel S</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Swinkels+H%22">Swinkels H</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Zomer+N%22">Zomer N</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Steehouwer+M%22">Steehouwer M</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22O'Gorman+L%22">O'Gorman L</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+G%22">Astuti G</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Neveling+K%22">Neveling K</searchLink>; Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Schüle+R%22">Schüle R</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, 69120 Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Xu+J%22">Xu J</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hengel+H%22">Hengel H</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schöls+L%22">Schöls L</searchLink>; Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Claeys+KG%22">Claeys KG</searchLink>; Department of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), 3000 Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Ferlini+A%22">Ferlini A</searchLink>; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Selvatici+R%22">Selvatici R</searchLink>; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Morsy+H%22">Morsy H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Saeed+Abd+Elmaksoud+M%22">Saeed Abd Elmaksoud M</searchLink>; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 5372066, Egypt.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Müller+J%22">Müller J</searchLink>; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pini+V%22">Pini V</searchLink>; 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Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Graessner+H%22">Graessner H</searchLink>; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.; Center for Rare Diseases, University Hospital Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Beltran+S%22">Beltran S</searchLink>; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Ossowski+S%22">Ossowski S</searchLink>; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; 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  Data: <searchLink fieldCode="JN" term="%229518021%22">Genome research</searchLink> [Genome Res] 2025 Apr 14; Vol. 35 (4), pp. 755-768. <i>Date of Electronic Publication: </i>2025 Apr 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9518021 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1549-5469 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210889051%22">10889051 </searchLink><i>NLM ISO Abbreviation: </i>Genome Res <i>Subsets: </i>MEDLINE
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            NameFull: Schöls L
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      – PersonEntity:
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            NameFull: Van de Vondel L
      – PersonEntity:
          Name:
            NameFull: Ferlini A
      – PersonEntity:
          Name:
            NameFull: Selvatici R
      – PersonEntity:
          Name:
            NameFull: Morsy H
      – PersonEntity:
          Name:
            NameFull: Saeed Abd Elmaksoud M
      – PersonEntity:
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            NameFull: Straub V
      – PersonEntity:
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            NameFull: Müller J
      – PersonEntity:
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            NameFull: Pini V
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            NameFull: Perry L
      – PersonEntity:
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            NameFull: Laurie S
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    IsPartOfRelationships:
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          Dates:
            – D: 14
              M: 04
              Text: 2025 Apr 14
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1549-5469
          Numbering:
            – Type: volume
              Value: 35
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Genome research
              Type: main
ResultId 1