Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Abstract

Authors

• Christopher C Y Mak
  Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.
• Hannah Klinkhammer
  Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
• Sanaa Choufani
  Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
• Nikola Reko
  Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
• Angela K Christman
  Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
• Elise Pisan
  Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.
• Martin M C Chui
  Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.
• Mianne Lee
  Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.
• Fiona Leduc
  CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.
• Jennifer C Dempsey
  Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
• Pedro A Sanchez-Lara
  Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Department of Pediatrics, Guerin Children's at Cedars Sinai Medical Center, Los Angeles, CA, USA.
• Hannah M Bombei
  Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.
• John A Bernat
  Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.
• Laurence Faivre
  Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; Equipe GAD INSERM UMR1231, Université de Bourgogne Franche Comté, Dijon, France.
• Frederic Tran Mau-Them
  Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; UF 6254 Innovation en diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.
• Irene Valenzuela Palafoll
  Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.
• Natalie Canham
  Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK.
• Ajoy Sarkar
  Department of Clinical Genetics, Nottingham University Hospitals National Health Service Trust, Nottingham, NG5 1PB, UK.
• Yuri A Zarate
  Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72701, USA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.
• Bert Callewaert
  Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
• Ewelina Bukowska-Olech
  Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland.
• Aleksander Jamsheer
  Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Diagnostyka GENESIS, Center for Medical Genetics in Poznan, Poland.
• Andreas Zankl
  School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK, LASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal, Genetic Services of Western Australia, King Edward Memorial Hospital, WA 6008, Australia, School of Paediatrics and Child Health, University of Western Australia, WA 6008, Australia, Institute for Immunology and Infectious Diseases, Murdoch University, WA 6150, Australia, Office of Population Health, Public Health and Clinical Services Division, Western Australian Department of Health, WA 6004, Australia, Academic Department of Medical Genetics, Sydney Children's Hospitals Network (Westmead), NSW 2145, Australia, Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, NSW 2006, Australia, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany and Berlin Brandenburg Center for Regenerative Therapies, 13353 Berlin, Germany School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informa
• Marjolaine Willems
  Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier University, Montpellier, France.
• Laura Duncan
  Department of Psychiatry & Behavioural Neurosciences, McMaster University, 1280 Main St W, Hamilton, Ontario, L8S 4K1, Canada. duncanlj@mcmaster.ca.
• Bertrand Isidor
  Service de Génétique Médicale and L'institut du Thorax, CHU Nantes, Nantes Université, CNRS, INSERM, Nantes, France.
• Benjamin Cogne
  Medical Genetics Service, Nantes University Hospital Center, Nantes, France.
• Odile Boute
  CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.
• Clémence Vanlerberghe
  CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.
• Alice Goldenberg
  Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Rouen, F-76000, France.
• Elliot Stolerman
  Greenwood Genetic Center, SC, USA.
• Karen J Low
  Centre for Academic Child Health, Bristol Medical School, University of Bristol, UK; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.
• Vianney Gilard
  Department of Neurosurgery, Rouen University Hospital, 1 rue de Germont, 76000, Rouen, France.
• Jeanne Amiel
  Imagine Institute, INSERM UMR1163, 75015, Paris, France.
• Angela E Lin
  Medical Genetics, Mass General for Children, Boston, MA, 02114, USA.
• Christopher T Gordon
  Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.
• Dan Doherty
  Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
• Peter M Krawitz
  Institute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.
• Rosanna Weksberg
  Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.
• Tzung-Chien Hsieh
  Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
• Brian H Y Chung
  Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: bhychung@hku.hk.

Keywords

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