Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
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| Title: | Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. |
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| Authors: | Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Demidov G; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany., O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Corominas-Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Swinkels H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Faivre L; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France., Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Duffourd Y; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Chevarin M; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., 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., van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands., Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ossowski S; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl. |
| Corporate Authors: | Solve-RD consortium |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Feb; Vol. 32 (2), pp. 200-208. Date of Electronic Publication: 2023 Oct 19. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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