A brief history of human disease genetics.
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Claussnitzer M
Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
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Cho JH
Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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Collins R
Nuffield Department of Population Health (NDPH), University of Oxford, Oxford, UK.
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Cox NJ
Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
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Dermitzakis ET
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
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Hurles ME
Wellcome Sanger Institute, Hinxton, UK.
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Kathiresan S
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
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Kenny EE
Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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Lindgren CM
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
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MacArthur DG
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
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North KN
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
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Plon SE
Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
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Rehm HL
Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
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Risch N
Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
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Rotimi CN
Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
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Shendure J
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
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Soranzo N
Wellcome Sanger Institute, Hinxton, UK.
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McCarthy MI
Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. mccarthy.mark@gene.com.
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English
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.
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Open access status
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bronze
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Persistent URL
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https://sonar.ch/global/documents/43713
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