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Health and population effects of rare gene knockouts in adult humans with related parents

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Science  22 Apr 2016:
Vol. 352, Issue 6284, pp. 474-477
DOI: 10.1126/science.aac8624

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vol. 352 no. 6284 474-477

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History: 
  • Received for publication November 12, 2015
  • Accepted for publication February 18, 2016

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  1. Vagheesh M. Narasimhan1,
  2. Karen A. Hunt2,*,
  3. Dan Mason3,*,
  4. Christopher L. Baker4,*,
  5. Konrad J. Karczewski5,6,*,
  6. Michael R. Barnes7,
  7. Anthony H. Barnett8,
  8. Chris Bates9,
  9. Srikanth Bellary10,
  10. Nicholas A. Bockett2,
  11. Kristina Giorda11,
  12. Christopher J. Griffiths2,
  13. Harry Hemingway12,13,
  14. Zhilong Jia7,
  15. M. Ann Kelly14,
  16. Hajrah A. Khawaja7,
  17. Monkol Lek5,6,
  18. Shane McCarthy1,
  19. Rosie McEachan3,
  20. Anne O’Donnell-Luria5,6,
  21. Kenneth Paigen4,
  22. Constantinos A. Parisinos2,
  23. Eamonn Sheridan3,
  24. Laura Southgate2,
  25. Louise Tee14,
  26. Mark Thomas1,
  27. Yali Xue1,
  28. Michael Schnall-Levin11,
  29. Petko M. Petkov4,
  30. Chris Tyler-Smith1,
  31. Eamonn R. Maher15,16,
  32. Richard C. Trembath2,17,
  33. Daniel G. MacArthur5,6,
  34. John Wright3,
  35. Richard Durbin1,,,
  36. David A. van Heel2,,
  1. 1Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  2. 2Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
  3. 3Bradford Institute for Health Research, Bradford Teaching Hospitals National Health Service (NHS) Foundation Trust, Bradford BD9 6RJ, UK.
  4. 4Center for Genome Dynamics, The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  5. 5Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  6. 6Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  7. 7William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
  8. 8Diabetes and Endocrine Centre, Heart of England NHS Foundation Trust and University of Birmingham, Birmingham B9 5SS, UK.
  9. 9TPP, Mill House, Troy Road, Leeds LS18 5TN, UK.
  10. 10Aston Research Centre for Healthy Ageing, Aston University, Birmingham B4 7ET, UK.
  11. 1110X Genomics, 7068 Koll Center Parkway, Suite 415, Pleasanton, CA 94566, USA.
  12. 12Farr Institute of Health Informatics Research, London NW1 2DA, UK.
  13. 13Institute of Health Informatics, University College London, London NW1 2DA, UK.
  14. 14School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK.
  15. 15Department of Medical Genetics, University of Cambridge and National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, Box 238, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  16. 16Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  17. 17Faculty of Life Sciences and Medicine, King’s College London, London SE1 1UL, UK.
  1. Corresponding author. Email: rd{at}sanger.ac.uk (R.D.); d.vanheel{at}qmul.ac.uk (D.A.v.H.)
  1. * These authors contributed equally to this work.

  2. These authors contributed equally to this work.

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