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Quantifying the contribution of recessive coding variation to developmental disorders

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Science  07 Dec 2018:
Vol. 362, Issue 6419, pp. 1161-1164
DOI: 10.1126/science.aar6731

Article Information

vol. 362 no. 6419 1161-1164

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History: 
  • Received for publication December 6, 2017
  • Resubmitted August 10, 2018
  • Accepted for publication October 29, 2018

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Author Information

  1. Hilary C. Martin1,*,
  2. Wendy D. Jones1,2,
  3. Rebecca McIntyre1,
  4. Gabriela Sanchez-Andrade1,
  5. Mark Sanderson1,
  6. James D. Stephenson1,3,
  7. Carla P. Jones1,
  8. Juliet Handsaker1,
  9. Giuseppe Gallone1,
  10. Michaela Bruntraeger1,
  11. Jeremy F. McRae1,
  12. Elena Prigmore1,
  13. Patrick Short1,
  14. Mari Niemi1,
  15. Joanna Kaplanis1,
  16. Elizabeth J. Radford1,4,
  17. Nadia Akawi5,
  18. Meena Balasubramanian6,
  19. John Dean7,
  20. Rachel Horton8,
  21. Alice Hulbert9,
  22. Diana S. Johnson6,
  23. Katie Johnson10,
  24. Dhavendra Kumar11,
  25. Sally Ann Lynch12,
  26. Sarju G. Mehta13,
  27. Jenny Morton14,
  28. Michael J. Parker15,
  29. Miranda Splitt16,
  30. Peter D. Turnpenny17,
  31. Pradeep C. Vasudevan18,
  32. Michael Wright16,
  33. Andrew Bassett1,
  34. Sebastian S. Gerety1,
  35. Caroline F. Wright19,
  36. David R. FitzPatrick20,
  37. Helen V. Firth1,13,
  38. Matthew E. Hurles1,
  39. Jeffrey C. Barrett1,*,
  40. on behalf of the Deciphering Developmental Disorders Study
  1. 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  2. 2Great Ormond Street Hospital for Children, National Health Service (NHS) Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
  3. 3European Molecular Biology Laboratory–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK.
  4. 4Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  5. 5Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  6. 6Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.
  7. 7Department of Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.
  8. 8Wessex Clinical Genetics Service, G Level, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.
  9. 9Cheshire and Merseyside Clinical Genetic Service, Liverpool Women’s NHS Foundation Trust, Crown Street, Liverpool L8 7SS, UK.
  10. 10Department of Clinical Genetics, City Hospital Campus, Hucknall Road, Nottingham NG5 1PB, UK.
  11. 11Institute of Cancer and Genetics, University Hospital of Wales, Cardiff, UK.
  12. 12Temple Street Children’s Hospital, Dublin, Ireland.
  13. 13Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  14. 14Clinical Genetics Unit, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK.
  15. 15Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Western Bank, Sheffield S10 2TH, UK.
  16. 16Northern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.
  17. 17Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  18. 18Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
  19. 19University of Exeter Medical School, Institute of Biomedical and Clinical Science, Research, Innovation, Learning and Development (RILD), Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.
  20. 20Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
  1. *Corresponding author. Email: hcm{at}sanger.ac.uk (H.C.M.); jeff.barrett{at}genomicsplc.com (J.C.B.)

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