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A brief history of human disease genetics.
Claussnitzer, Melina; Cho, Judy H; Collins, Rory; Cox, Nancy J; Dermitzakis, Emmanouil T; Hurles, Matthew E; Kathiresan, Sekar; Kenny, Eimear E; Lindgren, Cecilia M; MacArthur, Daniel G; North, Kathryn N; Plon, Sharon E; Rehm, Heidi L; Risch, Neil; Rotimi, Charles N; Shendure, Jay; Soranzo, Nicole; McCarthy, Mark I.
Afiliação
  • Claussnitzer M; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
  • Cho JH; Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
  • Collins R; Institute of Nutritional Science, University of Hohenheim, Stuttgart, Germany.
  • Cox NJ; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Dermitzakis ET; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Hurles ME; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Kathiresan S; Nuffield Department of Population Health (NDPH), University of Oxford, Oxford, UK.
  • Kenny EE; UK Biobank, Stockport, UK.
  • Lindgren CM; Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • MacArthur DG; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • North KN; Health 2030 Genome Center, Geneva, Switzerland.
  • Plon SE; Wellcome Sanger Institute, Hinxton, UK.
  • Rehm HL; Broad Institute of MIT and Harvard Cambridge, Cambridge, MA, USA.
  • Risch N; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Rotimi CN; Verve Therapeutics, Cambridge, MA, USA.
  • Shendure J; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Soranzo N; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • McCarthy MI; Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nature ; 577(7789): 179-189, 2020 01.
Article em En | MEDLINE | ID: mdl-31915397
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos