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Pathogenicity and selective constraint on variation near splice sites

View ORCID ProfileJenny Lord, Giuseppe Gallone, Patrick J. Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton-Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne P. M. McConnell, Wayne Lam, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles, on behalf of the Deciphering Developmental Disorders study
doi: https://doi.org/10.1101/256636
Jenny Lord
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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  • ORCID record for Jenny Lord
Giuseppe Gallone
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Patrick J. Short
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Jeremy F. McRae
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Holly Ironfield
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Elizabeth H. Wynn
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Sebastian S. Gerety
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Liu He
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Bronwyn Kerr
2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
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Diana S. Johnson
4Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU
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Emma McCann
5Liverpool Women’s Hospital Foundation Trust, Crown Street, Liverpool, L8 7SS
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Esther Kinning
6West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow G3 8SJ, UK
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Frances Flinter
7South East Thames Regional Genetics Centre, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, Great Maze Pond, London SE1 9RT, UK
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I. Karen Temple
8Faculty of Medicine, University of Southampton, Institute of Developmental Sciences, Tremona Road, Southampton SO16 6YD
9Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
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Jill Clayton-Smith
2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
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Meriel McEntagart
10South West Thames Regional Genetics Centre, St George’s Healthcare NHS Trust, St George’s, University of London, Cranmer Terrace, London SW17 0RE, UK
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Sally Ann Lynch
11Temple Street Children’s Hospital, Dublin 1, Ireland
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Shelagh Joss
12West of Scotland Regional Genetics Service, NHS Greater Glasgow & Clyde, Level 2, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF
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Sofia Douzgou
2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
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Tabib Dabir
13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
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Virginia Clowes
14North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park and St Mark’s Hospitals, Watford Road, Harrow HA1 3UJ, UK
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Vivienne P. M. McConnell
13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
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Wayne Lam
15MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
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Caroline F. Wright
16Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Level 4, ED&E, Barrack Road, Exeter, EX2 5DW, UK
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David R. FitzPatrick
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
15MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
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Helen V. Firth
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
17East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
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Jeffrey C. Barrett
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Matthew E. Hurles
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Article Information

doi 
https://doi.org/10.1101/256636
History 
  • August 30, 2018.

Article Versions

  • Version 1 (January 30, 2018 - 08:17).
  • You are viewing Version 2, the most recent version of this article.
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.

Author Information

  1. Jenny Lord1,
  2. Giuseppe Gallone1,
  3. Patrick J. Short1,
  4. Jeremy F. McRae1,
  5. Holly Ironfield1,
  6. Elizabeth H. Wynn1,
  7. Sebastian S. Gerety1,
  8. Liu He1,
  9. Bronwyn Kerr2,3,
  10. Diana S. Johnson4,
  11. Emma McCann5,
  12. Esther Kinning6,
  13. Frances Flinter7,
  14. I. Karen Temple8,9,
  15. Jill Clayton-Smith2,3,
  16. Meriel McEntagart10,
  17. Sally Ann Lynch11,
  18. Shelagh Joss12,
  19. Sofia Douzgou2,3,
  20. Tabib Dabir13,
  21. Virginia Clowes14,
  22. Vivienne P. M. McConnell13,
  23. Wayne Lam15,
  24. Caroline F. Wright16,
  25. David R. FitzPatrick1,15,
  26. Helen V. Firth1,17,
  27. Jeffrey C. Barrett1,
  28. Matthew E. Hurles1,
  29. on behalf of the Deciphering Developmental Disorders study
  1. 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
  2. 2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre
  3. 3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
  4. 4Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU
  5. 5Liverpool Women’s Hospital Foundation Trust, Crown Street, Liverpool, L8 7SS
  6. 6West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow G3 8SJ, UK
  7. 7South East Thames Regional Genetics Centre, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, Great Maze Pond, London SE1 9RT, UK
  8. 8Faculty of Medicine, University of Southampton, Institute of Developmental Sciences, Tremona Road, Southampton SO16 6YD
  9. 9Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
  10. 10South West Thames Regional Genetics Centre, St George’s Healthcare NHS Trust, St George’s, University of London, Cranmer Terrace, London SW17 0RE, UK
  11. 11Temple Street Children’s Hospital, Dublin 1, Ireland
  12. 12West of Scotland Regional Genetics Service, NHS Greater Glasgow & Clyde, Level 2, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF
  13. 13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
  14. 14North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park and St Mark’s Hospitals, Watford Road, Harrow HA1 3UJ, UK
  15. 15MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
  16. 16Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Level 4, ED&E, Barrack Road, Exeter, EX2 5DW, UK
  17. 17East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK
  1. CONTACT DETAILS OF CORRESPONDING AUTHOR:
    Matthew E. Hurles, meh{at}sanger.ac.uk Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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Pathogenicity and selective constraint on variation near splice sites
Jenny Lord, Giuseppe Gallone, Patrick J. Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton-Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne P. M. McConnell, Wayne Lam, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles, on behalf of the Deciphering Developmental Disorders study
bioRxiv 256636; doi: https://doi.org/10.1101/256636
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Pathogenicity and selective constraint on variation near splice sites
Jenny Lord, Giuseppe Gallone, Patrick J. Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton-Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne P. M. McConnell, Wayne Lam, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles, on behalf of the Deciphering Developmental Disorders study
bioRxiv 256636; doi: https://doi.org/10.1101/256636

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