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Optical genome mapping enables constitutional chromosomal aberration detection
Authors:Tuomo Mantere  Kornelia Neveling  Cline Pebrel-Richard  Marion Benoist  Guillaume van der Zande  Ellen Kater-Baats  Imane Baatout  Ronald van Beek  Tony Yammine  Michiel Oorsprong  Faten Hsoumi  Daniel Olde-Weghuis  Wed Majdali  Susan Vermeulen  Marc Pauper  Aziza Lebbar  Marian Stevens-Kroef  Damien Sanlaville  Jean Michel Dupont  Dominique Smeets  Alexander Hoischen  Caroline Schluth-Bolard  Laïla El Khattabi
Institution:1. Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands;2. Radboud Institute of Medical Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands;3. Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, 90220 Oulu, Finland;4. Radboud Institute of Health Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands;5. Department of Chromosomal and Molecular Genetics, University Hospital of Clermont-Ferrand, 63003 Clermont-Ferrand, France;6. Department of Cytogenetics, APHP.centre – Université de Paris, Hôpital Cochin, 75014 Paris, France;7. Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France;8. Unit of Medical Genetics, Saint-Joseph University, 1107 2180 Beyrouth, Lebanon;9. Department of Genetics, Hospices Civils de Lyon, 69677 Bron, France;10. Université de Paris, Cochin Institute U1016, INSERM, 75014 Paris, France;11. Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands
Abstract:
Keywords:structural variants  chromosomal aberration  breakpoint characterization  karyotyping  optical genome mapping  OGM  constitutional aberrations  cytogenetics  CNV microarray  FISH
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