Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

  • Pradeep Natarajan
    Center for Human Genetic Research, Cardiovascular Research Center, and Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Nina B. Gold
    Harvard Medical School, Boston, MA 02115, USA.
  • Alexander G. Bick
    Harvard Medical School, Boston, MA 02115, USA.
  • Heather McLaughlin
    Harvard Medical School, Boston, MA 02115, USA.
  • Peter Kraft
    Departments of Epidemiology and Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
  • Heidi L. Rehm
    Harvard Medical School, Boston, MA 02115, USA.
  • Gina M. Peloso
    Harvard Medical School, Boston, MA 02115, USA.
  • James G. Wilson
    Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Adolfo Correa
    Departments of Pediatrics and Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Jonathan G. Seidman
    Harvard Medical School, Boston, MA 02115, USA.
  • Christine E. Seidman
    Harvard Medical School, Boston, MA 02115, USA.
  • Sekar Kathiresan
    Center for Human Genetic Research, Cardiovascular Research Center, and Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Robert C. Green
    Harvard Medical School, Boston, MA 02115, USA.

書誌事項

公開日
2016-11-09
権利情報
  • http://www.sciencemag.org/about/science-licenses-journal-article-reuse
DOI
  • 10.1126/scitranslmed.aag2367
公開者
American Association for the Advancement of Science (AAAS)

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説明

<jats:p>In two separate analyses, people with disease-associated mutations exhibited features of the corresponding disease more often than expected, a result that supports the use of population-based genetic screening.</jats:p>

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