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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, E. de Boer, K. Polavarapu, N. Schuermans, AK. Sommer, G. Demidov, K. Ellwanger, I. Paramonov, C. Thomas, S. Aretz, J. Baets, E. Benetti, G. Bullich, PF. Chinnery, J. Clayton-Smith, E. Cohen, D. Danis, JM. de Sainte Agathe,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Perzistentní odkaz
https://www.medvik.cz/link/bmc25010030
- MeSH
- databáze genetické MeSH
- exom genetika MeSH
- genom lidský genetika MeSH
- genomika * metody MeSH
- lidé MeSH
- rodokmen MeSH
- výpočetní biologie metody MeSH
- vzácné nemoci * genetika diagnóza MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease genes (n = 67), recently reclassified in ClinVar (n = 187) or reclassified by consensus expert decision within Solve-RD (n = 210). Bespoke bioinformatics analyses identified the remaining 15.9% of causative variants (n = 88). Ad hoc expert review, parallel to the systematic reanalysis, diagnosed 249 (4.1%) additional families for an overall diagnostic yield of 12.6%. The infrastructure and collaborative networks set up by Solve-RD can serve as a blueprint for future further scalable international efforts. The resource is open to the global rare-disease community, allowing phenotype, variant and gene queries, as well as genome-wide discoveries.
Brain and Mind Research Institute University of Ottawa Ottawa Ontario Canada
Center for Hereditary Tumor Syndromes University Hospital Bonn Bonn Germany
Center for Medical Genetics Ghent University Hospital Ghent Belgium
Centre de Recherche en Myologie Sorbonne Université Inserm Institut de Myologie Paris France
Centre for Rare Diseases University of Tübingen Tübingen Germany
Centro Nacional de Análisis Genómico Barcelona Spain
Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada
Clinical Institute of Genomic Medicine University Medical Centre Ljubljana Ljubljana Slovenia
Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands
Department of Clinical Neurosciences University of Cambridge Cambridge UK
Department of Genetics and Genome Biology University of Leicester Leicester UK
Department of Human Genetics Medical Research Institute Alexandria University Alexandria Egypt
Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands
Department of Neurology Radboud University Medical Center Nijmegen the Netherlands
Department of Neurology University Hospital Schleswig Holstein Lübeck Germany
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK
Division of Neurology Department of Medicine The Ottawa Hospital Ottawa Ontario Canada
Dubowitz Neuromuscular Centre UCL Great Ormond Street Hospital London UK
European Bioinformatics Institute European Molecular Biology Laboratory Cambridge UK
Faculty of Medicine University of Porto Porto Portugal
Folkhälsan Research Centre and Medicum University of Helsinki Helsinki Finland
Genetica Medica Azienda Ospedaliero Universitaria Senese Siena Italy
Genetics Department Dijon University Hospital Dijon France
German Center for Neurodegenerative Diseases Tübingen Germany
GIMI institute Dijon University Hospital Dijon France
INSERM UMR 1141 NeuroDiderot Hôpital Robert DEBRE Paris France
Institut du Cerveau Sorbonne University Paris France
Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania
Institute of Human Genetics Medical Faculty University of Bonn Bonn Germany
Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany
Institute of Neurogenetics University of Lübeck Lübeck Germany
Institute of Systems Motor Science University of Lübeck Lübeck Germany
Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal
IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto Porto Portugal
Jackson Laboratory for Genomic Medicine Farmington CT USA
Laboratory of Neuromuscular Pathology Institute Born Bunge University of Antwerp Antwerp Belgium
Medical Genetics University of Siena Siena Italy
Medical Research Council Mitochondrial Biology Unit University of Cambridge Cambridge UK
MGZ Medical Genetics Center Munich Germany
Molecular Genetics and Functional Genomics Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy
MRGM Maladies Rares Génétique et Métabolisme INSERM U1211 Université de Bordeaux Bordeaux France
National Center for Tumor Diseases Dresden Germany
Neuromuscular Reference Centre Department of Neurology Antwerp University Hospital Antwerp Belgium
NGS Competence Center Tübingen University of Tübingen Tübingen Germany
NIHR Great Ormond Street Hospital Biomedical Research Centre London UK
Peripheral Neuropathy Research Group University of Antwerp Antwerp Belgium
Program for Undiagnosed Rare Diseases Ghent University Hospital Ghent Belgium
Radboud Institute for Medical Innovation Nijmegen the Netherlands
Service de Génétique Médicale Centre Hospitalier Universitaire de Bordeaux Bordeaux France
Tampere Neuromuscular Center Tampere Finland
Telethon Institute of Genetics and Medicine Pozzuoli Italy
Universitat de Barcelona Barcelona Spain
University of Burgundy Dijon France
Citace poskytuje Crossref.org
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