Research Article

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

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Science  06 Jul 2012:
Vol. 337, Issue 6090, pp. 64-69
DOI: 10.1126/science.1219240

Article Information

vol. 337 no. 6090 64-69

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History: 
  • Received for publication January 17, 2012
  • Accepted for publication May 3, 2012

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Author Information

  1. Jacob A. Tennessen1,*,
  2. Abigail W. Bigham2,*,,
  3. Timothy D. O’Connor1,*,
  4. Wenqing Fu1,
  5. Eimear E. Kenny3,
  6. Simon Gravel3,
  7. Sean McGee1,
  8. Ron Do4,5,
  9. Xiaoming Liu6,
  10. Goo Jun7,
  11. Hyun Min Kang7,
  12. Daniel Jordan8,
  13. Suzanne M. Leal9,
  14. Stacey Gabriel4,
  15. Mark J. Rieder1,
  16. Goncalo Abecasis7,
  17. David Altshuler4,
  18. Deborah A. Nickerson1,
  19. Eric Boerwinkle6,10,
  20. Shamil Sunyaev4,8,
  21. Carlos D. Bustamante3,
  22. Michael J. Bamshad1,2,,
  23. Joshua M. Akey1,,
  24. Broad GO,
  25. Seattle GO,
  26. on behalf of the NHLBI Exome Sequencing Project
  1. 1Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  2. 2Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  3. 3Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  4. 4Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  5. 5The Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  6. 6Human Genetics Center, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.
  7. 7Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
  8. 8Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
  9. 9Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  10. 10Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  1. To whom correspondence should be addressed. E-mail: akeyj{at}uw.edu (J.M.A.); mbamshad{at}u.washington.edu (M.J.B.)
  1. * These authors contributed equally to this work.

  • Present address: Department of Anthropology, University of Michigan, Ann Arbor, MI 48109, USA.

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