학술논문
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Document Type
Academic Journal
Author
Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Corvó A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Fernández-Callejo M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Garcia-Linares C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK.; Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Luengo C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Martínez I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Picó-Amador D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Protasio J; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Tonda R; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Bayés M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Bullich G; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Camps-Puchadas J; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Paramonov I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Trotta JR; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Alonso A; Genomic Medicine Unit, Navarrabiomed-Universidad Pública de Navarra (UPNA)-Hospital Universitario de Navarra (HUN), IdiSNA, Pamplona, Navarra, Spain.; Attimonelli M; Department of Biosciences, Biotechnology and Biopharmaceutics, University of A. Moro, Bari, Italy.; Béroud C; INSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.; Département de Génétique Médicale, APHM, Hôpital d'Enfants de la Timone, Marseille, France.; Bros-Facer V; EURORDIS-Rare Diseases Europe.; Buske OJ; Phenotips, Toronto, Ontario, Canada.; Cañada-Pallarés A; Fernández JM; Barcelona Supercomputing Center, Spain.; Hansson MG; Centre for Research Ethics & Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Jacobsen JOB; Queen Mary University of London, William Harvey Research Institute, London, UK.; Kaliyaperumal R; Leiden University Medical Center, Leiden, The Netherlands.; Lair-Préterre S; CHU Rouen, Rouen, France.; Licata L; Department of Biology, University of Rome Tor Vergata, Rome, Italy.; Fondazione Human Technopole, Milan, Italy.; Lopes P; IEETA, Aveiro, Portugal.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Mascalzoni D; CRB-Center for Ethics and Bioethics, Uppsala University, Sweden.; Eurac Research Bolzano, Italy.; Monaco L; Fondazione Telethon, Milan, Italy.; Pérez-Jurado LA; Genetics Unit, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.; Genetics Service, Hospital del Mar & Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Posada de la Paz M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Rambla J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Rath A; INSERM, US-14 Orphanet, Paris, France.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Salgado D; INSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.; CNRS, Institut Français de Bioinformatique, IFB-core, Evry, France.; Smedley D; Queen Mary University of London, William Harvey Research Institute, London, UK.; Spalding D; European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK.; CSC-IT Center for Science, Life Science Center, Espoo, Finland.; 't Hoen PAC; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.; Zaharieva I; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Unit, London, UK.; Graessner H; Institute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; European Reference Network for Rare Neurological Diseases.; Gut IG; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Lochmüller H; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.
Source
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Subject
Language
English
Abstract
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.
(© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.)
(© 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.)