Research ArticleMEDICAL GENOMICS

Quantifying prion disease penetrance using large population control cohorts

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Science Translational Medicine  20 Jan 2016:
Vol. 8, Issue 322, pp. 322ra9
DOI: 10.1126/scitranslmed.aad5169

Article Information

vol. 8 no. 322 322ra9

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History: 
  • Received for publication September 25, 2015
  • Accepted for publication December 14, 2015

Author Information

  1. Eric Vallabh Minikel1,2,3,4,*,
  2. Sonia M. Vallabh1,3,4,
  3. Monkol Lek1,2,
  4. Karol Estrada1,2,
  5. Kaitlin E. Samocha1,2,3,
  6. J. Fah Sathirapongsasuti5,
  7. Cory Y. McLean5,
  8. Joyce Y. Tung5,
  9. Linda P. C. Yu5,
  10. Pierluigi Gambetti6,
  11. Janis Blevins6,
  12. Shulin Zhang7,
  13. Yvonne Cohen6,
  14. Wei Chen6,
  15. Masahito Yamada8,
  16. Tsuyoshi Hamaguchi8,
  17. Nobuo Sanjo9,
  18. Hidehiro Mizusawa10,
  19. Yosikazu Nakamura11,
  20. Tetsuyuki Kitamoto12,
  21. Steven J. Collins13,
  22. Alison Boyd13,
  23. Robert G. Will14,
  24. Richard Knight14,
  25. Claudia Ponto15,
  26. Inga Zerr15,
  27. Theo F. J. Kraus16,
  28. Sabina Eigenbrod16,
  29. Armin Giese16,
  30. Miguel Calero17,
  31. Jesús de Pedro-Cuesta17,
  32. Stéphane Haïk18,19,
  33. Jean-Louis Laplanche20,
  34. Elodie Bouaziz-Amar20,
  35. Jean-Philippe Brandel18,19,
  36. Sabina Capellari21,22,
  37. Piero Parchi21,22,
  38. Anna Poleggi23,
  39. Anna Ladogana23,
  40. Anne H. O’Donnell-Luria1,2,24,
  41. Konrad J. Karczewski1,2,
  42. Jamie L. Marshall1,2,
  43. Michael Boehnke25,
  44. Markku Laakso26,
  45. Karen L. Mohlke27,
  46. Anna Kähler28,
  47. Kimberly Chambert29,
  48. Steven McCarroll29,
  49. Patrick F. Sullivan27,28,
  50. Christina M. Hultman28,
  51. Shaun M. Purcell30,
  52. Pamela Sklar30,
  53. Sven J. van der Lee31,
  54. Annemieke Rozemuller32,
  55. Casper Jansen32,
  56. Albert Hofman31,
  57. Robert Kraaij33,
  58. Jeroen G. J. van Rooij33,
  59. M. Arfan Ikram31,
  60. André G. Uitterlinden31,33,
  61. Cornelia M. van Duijn31,
  62. Exome Aggregation Consortium (ExAC),
  63. Mark J. Daly1,2 and
  64. Daniel G. MacArthur1,2,*
  1. 1Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA.
  2. 2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  3. 3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
  4. 4Prion Alliance, Cambridge, MA 02139, USA.
  5. 5Research, 23andMe Inc., Mountain View, CA 94041, USA.
  6. 6National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, USA.
  7. 7University Hospitals Case Medical Center, Cleveland, OH 44106, USA.
  8. 8Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa 920-8640, Japan.
  9. 9Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  10. 10National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
  11. 11Department of Public Health, Jichi Medical University, Shimotsuke 329-0498, Japan.
  12. 12Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
  13. 13Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Victoria 3010, Australia.
  14. 14National Creutzfeldt-Jakob Disease Research & Surveillance Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
  15. 15National Reference Center for the Surveillance of Human Transmissible Spongiform Encephalopathies, Georg-August-University, Goettingen 37073, Germany.
  16. 16Center for Neuropathology and Prion Research (ZNP), Ludwig-Maximilians-University, Munich 81377, Germany.
  17. 17Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid 28031, Spain.
  18. 18INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, Pierre and Marie Curie University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France.
  19. 19Assistance Publique–Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.
  20. 20AP-HP, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 75010 Paris, France.
  21. 21Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna 40123, Italy.
  22. 22Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.
  23. 23Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy.
  24. 24Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA.
  25. 25Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA
  26. 26Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio 70210, Finland.
  27. 27Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA.
  28. 28Karolinska Institutet, Stockholm SE-171 77, Sweden.
  29. 29Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  30. 30Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  31. 31Department of Epidemiology, Erasmus Medical Center (MC), Rotterdam 3000 CA, Netherlands.
  32. 32Dutch Surveillance Centre for Prion Diseases, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands.
  33. 33Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, Netherlands.
  1. *Corresponding author. E-mail: eminikel{at}broadinstitute.org (E.V.M.); macarthur{at}atgu.mgh.harvard.edu (D.G.M.)
    • A list of consortium members appears at the end of this paper.

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