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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
Affiliation:1. Invitae, 1400 16th Street, San Francisco, CA 94103, USA;2. Rabin Medical Center-Beilinson Hospital and Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;3. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;4. Felsenstein Medical Research Center, Petach Tikva, Israel;5. Division of Clinical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;6. Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA;7. Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;8. Department of Pathology, Stanford University School of Medicine, Stanford, CA 94301, USA;9. Invitae Australia, Sydney, NSW, Australia;10. School of Medicine, University of California - San Francisco, San Francisco, CA, USA;1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA;2. Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA;3. Inserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France;4. SIREDO Oncology Centre, Institut Curie, 75005 Paris, France;5. Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA;6. ICGex Next-Generation Sequencing Platform, PSL Université, Research Center, Institut Curie, 75005 Paris, France;7. Balgrist University Hospital, Faculty of Medicine, University of Zurich (UZH), Zurich, Switzerland;8. Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France;9. Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany;10. Department of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800 Villejuif, France;11. Institute for Paediatric Haematology and Oncology, Leon Bérard Cancer Centre, University of Lyon, 69008 Lyon, France;12. Genome Modification Core Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA;13. Cancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA;14. University Children’s Hospital of Heidelberg, 69120 Heidelberg, Germany;15. Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany;16. Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany;17. German Center for Diabetes Research (DZD), 85764 München-Neuherberg, Germany;18. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany;19. Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany;20. Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany;21. Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU, 80539 Munich, Germany;22. Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany;23. Hopp-Children’s Cancer Center (KiTZ), Heidelberg, Germany;24. Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany;25. University Children’s Hospital of Essen, 45147 Essen, Germany;26. Department of Epidemiology and Cancer Control, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA;27. Institute for Cancer Outcomes and Survivorship, University of Alabama, Birmingham, AL 35294, USA;28. Gerhard- Domagk Institute of Pathology, University Hospital of Münster, 48149 Münster, Germany;29. University Children’s Hospital of Erlangen, 91054 Erlangen, Germany;30. Department of Population Science, American Cancer Society, Atlanta, GA, USA;31. Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany;1. Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA;2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA;3. Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA;4. VA Cooperative Studies Program Clinical Epidemiology Research Center (CSP-CERC), VA CT Healthcare System, West Haven, CT, USA;5. Department of Anthropology, University of Toronto, Mississauga, ON, Canada;6. Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada;7. Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA;8. Center for Innovations in Quality, Effectiveness, and Safety (IQuESt), Michael E. DeBakey VA Medical Center, Houston, TX 77030, USA;9. Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27705, USA;10. VA Cooperative Studies Program Epidemiology Center-Durham, Department of Veterans Affairs, Durham, NC 27705, USA;11. Department of Psychology and Neuroscience, University of Colorado Boulder, Boulder, CO, USA;12. Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA;1. MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK;2. Infection Science, North Bristol NHS Trust, Bristol, UK;3. Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK;4. Wellcome Centre For Human Genetics, University of Oxford, Oxford, UK;5. Department of Infectious Disease, Imperial College London, London, UK;6. Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, University of Edinburgh, Edinburgh, UK;7. Roslin Institute, University of Edinburgh, Edinburgh, UK;8. Intensive Care Unit, Royal Infirmary of Edinburgh, Edinburgh, UK;9. Project Sepsis, Cardiff University, Cardiff, UK;1. Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, P.R. China;2. Department of Joint Surgery, Honghui Hospital, Xi’an Jiaotong University, Xi’an, P.R. China;1. Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China;2. Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China;3. Department of Biomedical Informatics, School of Basic Medical Sciences, Peking University, Beijing, China;4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA;5. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA;6. Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA;7. Department of Biochemistry and Biophysics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China;8. Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China;9. Peking University Sixth Hospital, Peking University Institute of Mental Health, Beijing, China;10. NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, China;11. Henan Key Lab of Biological Psychiatry, the Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, China;12. Chinese Institute for Brain Research, Beijing, China;13. Graduate School of Data Science, Seoul National University, Seoul, Korea
Abstract:
Keywords:allele balance  next generation sequencing validation  mosaicism  depth of coverage  hereditary disease  germline
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