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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
Affiliation:1. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;2. Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;3. Cancer Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;4. NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;5. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA;6. Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA;7. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;1. Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil;2. Department of Computational Biology, University of Lausanne, Lausanne, Switzerland;3. Swiss Institute of Bioinformatics, Lausanne, Switzerland;4. University Center for Primary Care and Public Health, University of Lausanne, Lausanne, Switzerland;5. Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland;6. Sleep Institute, São Paulo, Brazil;7. Department of Clinical, Educational and Health Psychology, University College London, London, UK;1. Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;2. Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan;3. Department of iPS Cell Applied Medicine, Graduate School of Medicine, Kansai Medical University, Osaka, Japan;4. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan;5. Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;6. Department of Neurology, Tohoku University Graduate School of Medicine, Miyagi, Japan;7. Department of Medical Genetics, Tohoku University Graduate School of Medicine, Miyagi, Japan;8. Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, National Centre Hospital, Tokyo, Japan;9. Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan;10. Department of Neurology, Wakayama Medical University, Wakayama, Japan;11. Department of Neurology, Kansai Medical University, Osaka, Japan;12. Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan;13. Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan;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. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada;2. Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada;3. Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada;4. Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada;5. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;6. Techna Institute for the Advancement of Technology for Health, University Health Network, Toronto, ON, Canada;7. Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI, USA;8. Department of Pediatrics, University of Wisconsin, Madison, WI, USA;9. Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada;10. Department of Kinesiology, Faculty of Applied Health Sciences, Brock University, St. Catharines, ON, Canada;11. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada;12. Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada;13. Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada;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;1. Department of Medicine, Division of Medical Genetics, University of California San Diego, La Jolla, CA 92093, USA;2. Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA 92093, USA;3. Biomedical Science Program, University of California San Diego, La Jolla, CA 92093, USA;4. Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA;5. Public Health Sciences Division, Herbold Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA;6. Center for Data and Computational Sciences (C-DACS), VA Boston Healthcare System, Boston, MA 02130, USA;7. Booz Allen Hamilton, Inc., McLean, VA 22102, USA;8. Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto, CA, USA;9. Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA;10. Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA;11. Broad Institute of Harvard and MIT, Cambridge, MA 02115, USA;12. Department of Veterans Affairs Informatics and Computing Infrastructure (VINCI), VA Salt Lake City Healthcare System, Salt Lake City, UT, USA;13. Department of Internal Medicine, Division of Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA;14. VA San Diego Healthcare System, La Jolla, CA, USA;15. Center for Behavioral Genetics of Aging, University of California San Diego, La Jolla, CA, USA;16. Center of Excellence for Stress and Mental Health (CESAMH), VA San Diego Healthcare System, San Diego, CA, USA;17. Department of Medicine, Brigham Women’s Hospital, Boston, MA, USA;18. Department of Medicine, Harvard Medical School, Boston, MA, USA;19. Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA;20. Department of Pathology, University of California San Diego, La Jolla, CA 92093, USA;21. Division of Epidemiology, Herbert Wertheim School of Public Health and Human Longevity Science, University of California San Diego, La Jolla, CA 92093, USA;22. Center for Population Neuroscience and Genetics, Laureate Institute for Brain Research, Tulsa, OK 74136, USA;23. Moores Cancer Center, University of California San Diego, La Jolla, CA 92093, USA;24. Division of Biomedical Informatics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA;25. The Laboratory of Immunology, University of California San Diego, La Jolla, CA 92093, USA;26. Department of Medicine, Division of Hematology and Oncology, University of California San Diego, La Jolla, CA 92093, USA
Abstract:
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  • Keywords:tyrosinase  oculocutaneous albinism  haplotype  pigmentation  missing genetic heritability  foveal hypoplasia  hypopigmentation  albinism
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