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

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第一作者： Wouter,Steyaert

第一单位： Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands.

作者： Wouter,Steyaert ^[1] ; Lydia,Sagath ^[1] ; German,Demidov ^[2] ; Vicente A,Yépez ^[3] ; Anna,Esteve-Codina ^[4] ; Julien,Gagneur ^[5] ; Kornelia,Ellwanger ^[6] ; Ronny,Derks ^[1] ; Marjan,Weiss ^[1] ; Amber,den Ouden ^[1] ; Simone,van den Heuvel ^[1] ; Hilde,Swinkels ^[1] ; Nick,Zomer ^[1] ; Marloes,Steehouwer ^[1] ; Luke,O'Gorman ^[1] ; Galuh,Astuti ^[1] ; Kornelia,Neveling ^[1] ; Rebecca,Schüle ^[7] ; Jishu,Xu ^[8] ; Matthis,Synofzik ^[9] ; Danique,Beijer ^[8] ; Holger,Hengel ^[8] ; Ludger,Schöls ^[9] ; Kristl G,Claeys ^[10] ; Jonathan,Baets ^[11] ; Liedewei,Van de Vondel ^[12] ; Alessandra,Ferlini ^[13] ; Rita,Selvatici ^[13] ; Heba,Morsy ^[14] ; Marwa,Saeed Abd Elmaksoud ^[15] ; Volker,Straub ^[16] ; Juliane,Müller ^[17] ; Veronica,Pini ^[17] ; Luke,Perry ^[18] ; Anna,Sarkozy ^[17] ; Irina,Zaharieva ^[17] ; Francesco,Muntoni ^[18] ; Enrico,Bugiardini ^[19] ; Kiran,Polavarapu ^[20] ; Rita,Horvath ^[21] ; Evan,Reid ^[22] ; Hanns,Lochmüller ^[23] ; Marco,Spinazzi ^[24] ; Marco,Savarese ^[25] ; Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE ^[4] ; Leslie,Matalonga ^[4] ; Steven,Laurie ^[26] ; Han G,Brunner ^[6] ; Holm,Graessner ^[27] ; Sergi,Beltran ^[2] ; Stephan,Ossowski ^[1] ; Lisenka E L M,Vissers ^[1] ; Christian,Gilissen ^[28] ; Alexander,Hoischen ; Solve-RD consortium

作者单位： Radboud University Medical Center, Department of Human Genetics, Research Institute for Medical Innovation, 6500 HB Nijmegen, Netherlands. ^[1] Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany. ^[2] TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany. ^[3] Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.;Universitat de Barcelona (UB), 08007 Barcelona, Spain. ^[4] 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. ^[5] Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.;Center for Rare Diseases, University Hospital Tübingen, 72076 Tübingen, Germany. ^[6] 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. ^[7] Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany. ^[8] 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. ^[9] 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. ^[10] 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. ^[11] 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. ^[12] Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy. ^[13] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom. ^[14] Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 5372066, Egypt. ^[15] 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. ^[16] Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London WC1N 3JH, United Kingdom. ^[17] 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. ^[18] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom. ^[19] 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. ^[20] Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0PY, United Kingdom. ^[21] Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge CB2 0XY, United Kingdom. ^[22] 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. ^[23] Department of Neurology, Centre Hospitalier Universitaire d'Angers, 49933 Angers, France. ^[24] Folkhälsan Research Center, 00250 Helsinki, Uusimaa, Finland.;Faculty of Medicine, University of Helsinki, 00014 University of Helsinki, Uusimaa, Finland. ^[25] 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. ^[26] 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. ^[27] 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. ^[28]