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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
Giuseppe Gallone
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Patrick J. Short
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Jeremy F. McRae
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Holly Ironfield
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Elizabeth H. Wynn
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Sebastian S. Gerety
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Liu He
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
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
Diana S. Johnson
4Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU
Emma McCann
5Liverpool Women’s Hospital Foundation Trust, Crown Street, Liverpool, L8 7SS
Esther Kinning
6West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow G3 8SJ, UK
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
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
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
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
Sally Ann Lynch
11Temple Street Children’s Hospital, Dublin 1, Ireland
Shelagh Joss
12West of Scotland Regional Genetics Service, NHS Greater Glasgow & Clyde, Level 2, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow G51 4TF
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
Tabib Dabir
13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
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
Vivienne P. M. McConnell
13Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK
Wayne Lam
15MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
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
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
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
Jeffrey C. Barrett
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Matthew E. Hurles
1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Article usage
Posted August 30, 2018.
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
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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