Research Article

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

See allHide authors and affiliations

Science  17 Feb 2012:
Vol. 335, Issue 6070, pp. 823-828
DOI: 10.1126/science.1215040

Article Information

vol. 335 no. 6070 823-828

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication October 10, 2011
  • Accepted for publication January 11, 2012
  • .

Author Information

  1. Daniel G. MacArthur1,2,*,
  2. Suganthi Balasubramanian3,4,
  3. Adam Frankish1,
  4. Ni Huang1,
  5. James Morris1,
  6. Klaudia Walter1,
  7. Luke Jostins1,
  8. Lukas Habegger3,4,
  9. Joseph K. Pickrell5,
  10. Stephen B. Montgomery6,7,
  11. Cornelis A. Albers1,8,
  12. Zhengdong D. Zhang9,
  13. Donald F. Conrad10,
  14. Gerton Lunter11,
  15. Hancheng Zheng12,
  16. Qasim Ayub1,
  17. Mark A. DePristo13,
  18. Eric Banks13,
  19. Min Hu1,
  20. Robert E. Handsaker13,14,
  21. Jeffrey A. Rosenfeld15,
  22. Menachem Fromer13,
  23. Mike Jin3,
  24. Xinmeng Jasmine Mu3,4,
  25. Ekta Khurana3,4,
  26. Kai Ye16,
  27. Mike Kay1,
  28. Gary Ian Saunders1,
  29. Marie-Marthe Suner1,
  30. Toby Hunt1,
  31. If H. A. Barnes1,
  32. Clara Amid1,17,
  33. Denise R. Carvalho-Silva1,
  34. Alexandra H. Bignell1,
  35. Catherine Snow1,
  36. Bryndis Yngvadottir1,
  37. Suzannah Bumpstead1,
  38. David N. Cooper18,
  39. Yali Xue1,
  40. Irene Gallego Romero1,5,
  41. 1000 Genomes Project Consortium,
  42. Jun Wang12,
  43. Yingrui Li12,
  44. Richard A. Gibbs19,
  45. Steven A. McCarroll13,14,
  46. Emmanouil T. Dermitzakis7,
  47. Jonathan K. Pritchard5,20,
  48. Jeffrey C. Barrett1,
  49. Jennifer Harrow1,
  50. Matthew E. Hurles1,
  51. Mark B. Gerstein3,4,21,,
  52. Chris Tyler-Smith1,
  1. 1Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
  2. 2Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia.
  3. 3Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.
  4. 4Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.
  5. 5Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
  6. 6Departments of Pathology and Genetics, Stanford University, Stanford, CA 94305–5324, USA.
  7. 7Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland.
  8. 8Department of Haematology, University of Cambridge and NHS Blood and Transplant, Cambridge CB2 0PT, UK.
  9. 9Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
  10. 10Department of Genetics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
  11. 11Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  12. 12BGI-Shenzhen, Shenzhen 518083, China.
  13. 13Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
  14. 14Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
  15. 15IST/High Performance and Research Computing, University of Medicine and Dentistry of New Jersey, Newark, NJ 07103, USA.
  16. 16Molecular Epidemiology Section, Leiden University Medical Center, 2300 RC Leiden, Netherlands.
  17. 17The European Nucleotide Archive, European Molecular Biology Laboratory–European Bioinformatics Institute, Hinxton CB10 1SD, UK.
  18. 18Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
  19. 19Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  20. 20Howard Hughes Medical Institute, University of Chicago, Chicago, IL 60637, USA.
  21. 21Department of Computer Science, Yale University, New Haven, CT, USA.
  1. *To whom correspondence should be addressed. E-mail: macarthur{at}atgu.mgh.harvard.edu
  1. These authors contributed equally to this work.

Altmetric

Article usage

Article usage: February 2012 to September 2019

AbstractFullPdf
Feb 20123787434975367
Mar 2012780215351815
Apr 201239378551014
May 20122195455470
Jun 20121409390379
Jul 20121160328315
Aug 2012767272207
Sep 2012964218227
Oct 20121105302239
Nov 20121082348199
Dec 2012853234174
Jan 20132985269184
Feb 20131027242184
Mar 2013746204148
Apr 2013720255127
May 2013639268158
Jun 2013496213128
Jul 2013520191119
Aug 2013482186104
Sep 2013619257155
Oct 2013885289199
Nov 2013638249159
Dec 201339821986
Jan 2014500206116
Feb 2014574139107
Mar 2014507138118
Apr 2014528159119
May 2014632351199
Jun 2014487163131
Jul 201438911781
Aug 201447311877
Sep 2014473138113
Oct 2014808185188
Nov 2014689173176
Dec 2014377128100
Jan 2015513133112
Feb 2015536142130
Mar 2015445151103
Apr 2015481162136
May 2015464154106
Jun 2015460128120
Jul 2015450116112
Aug 201544011498
Sep 201555613387
Oct 2015458138105
Nov 20153639374
Dec 20153849580
Jan 20163355655
Feb 20163315985
Mar 201647878135
Apr 2016548113112
May 201647681105
Jun 20164178786
Jul 20163605878
Aug 20163706079
Sep 20163707780
Oct 20164647494
Nov 20164928396
Dec 20163155448
Jan 20173474847
Feb 20173685042
Mar 20173677381
Apr 201743562122
May 20174077081
Jun 20172244440
Jul 20173154348
Aug 20173414957
Sep 20172634348
Oct 20173376257
Nov 20173488154
Dec 20172734938
Jan 20183455764
Feb 20182956751
Mar 20183506559
Apr 20185606555
May 201811325468
Jun 201811823868
Jul 201812276358
Aug 201842116463
Sep 2018162414537
Oct 2018119716759
Nov 201824017468
Dec 201818112561
Jan 201917514462
Feb 201921814446
Mar 201926114867
Apr 201924918067
May 201920313647
Jun 201914912640
Jul 201919416573
Aug 201914915654
Sep 2019869126