[8]
Contributors listed at the end of the manuscript
[*]
contributed equally to this work
CORGI Consortium:
Huw Thomas
17, Eamonn Maher
18, Gareth Evans
19, Anneke Lucassen
9, Carole Cummings
17, Margaret Stevens
17, Lisa Walker
20, Dorothy Halliday
20, , Ruth Armstrong
21, Joan Paterson
21, Shirley Hodgson
22, Tessa Homfray
22, Lucy Side
23, Louise Izatt
24, Alan Donaldson
25, Susan Tomkins
25, Patrick Morrison
26, Selina Goodman
27, Carole Brewer
27, Alex Henderson
28, Rosemarie Davidson
29, Victoria Murday
29, Jaqueline Cook
30, Neva Haites
31, Timothy Bishop
32, Eamonn Sheridan
32, Andrew Green
33, Christopher Marks
34, Sue Carpenter
34, Mary Broughton
34, Lynn Greenhalge
35, Mohnish Suri
36
18Department of Clinical Genetics, University of Birmingham, Birmingham, UK.
19Department of Clinical Genetics, University of Manchester, Manchester, UK.
20Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
21Anglia Regional Genetics Service, Addenbrooke’s Hospital, Cambridge, UK.
22South-West Thames Regional Genetics Service, St George’s Hospital, London, UK.
23North-East Thames Regional Genetics Service, Great Ormond Street Hospital, London,
UK.
24South-East Thames Regional Genetics Service, Guy’s Hospital, London, UK.
25South-West Regional Genetics Service, Bristol, UK.
26Northern Ireland Regional Genetics Service, City Hospital, Belfast, UK.
27Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
28Northern Regional Genetics Service, International Centre for Life, Newcastle, UK.
29West of Scotland Regional Genetics Service, Yorkhill Hospital, Glasgow, UK.
30Sheffield Regional Genetics Service, Children’s Hospital, Sheffield, UK.
31North of Scotland Regional Genetics Service, Foresterhill Hospital, Aberdeen, UK.
32Yorkshire Regional Genetics Service, St James’s Hospital, Leeds, UK.
33Republic of Ireland Genetics Service, Our Lady’s Hospital for Sick Children, Dublin,
Ireland.
34The Royal Surrey County Hospital, Guildford, UK.
35Department of Clinical Genetics, Royal Liverpool Children’s Hospital, Alderhay, Liverpool,
UK.
36Department of Clinical Genetics, City Hospital, Nottingham, UK.
WGS500 Consortium:
Steering Committee:
Peter Donnelly (Chair)
2,10, John Bell
37 , David Bentley
7, Gilean McVean
2, Peter Ratcliffe
38, Jenny Taylor
5, Andrew Wilkie
5,39
Operations Committee:
Peter Donnelly (Chair)
2,10, John Broxholme
2, David Buck
2, Jean-Baptiste Cazier
2, Richard Cornall
38, Lorna Gregory
2, Julian Knight
40, Gerton Lunter
2, Gilean McVean
2, Jenny Taylor
5, Ian Tomlinson
1,5, Andrew Wilkie
5,39
Sequencing & Experimental Follow up:
David Buck (Lead)
2, Lorna Gregory
2, Sean Humphray
7, Zoya Kingsbury
7
Data Analysis:
Gilean McVean
2 (Lead), Peter Donnelly
2,10, Jean-Baptiste Cazier
2, John Broxholme
2, Russell Grocock
7, Edouard Hatton
2, Chris Holmes
2,10, Linda Hughes
2, Peter Humburg
2, Alexander Kanapin
2, Gerton Lunter
2, Lisa Murray
7, Andy Rimmer
2
37 Office of the Regius Professor of Medicine, Richard Doll Building, Roosevelt Drive,
Oxford OX3 7LF, UK;
38 Henry Wellcome Building for Molecular Physiology. Centre for Cellular and Molecular
Physiology. Nuffield Department of Clinical Medicine, Roosevelt Drive, Oxford OX3
7BN, UK;
39 Weatherall Inst of Molecular Medicine, University of Oxford; John Radcliffe Hospital,
Headington, Oxford OX3 9DS, UK;
40 Functional genomics of inflammation and immunity, Wellcome Trust Centre for Human
Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
Author contributions CP, KH, ED, AJ, PB, AS, DC, ZK, SS, CP, ES, LCC, YM, KK, SD, EGA, IS and SH performed
laboratory experiments and/or analysed those data. JBC analysed WGS data, with assistance
from MK, and supervised other bioinformatic data analysis. JT, SK and IT supervised
laboratory experiments. GMcV, PD and DB oversaw WGS500 analysis and CH provided additional
statistical advice. LM, EB, MG, AL, CP, RR, ES, DK, SC, HT, RH and IT obtained samples.
JG undertook structural analysis. RH and IT provided sequencing data and oversaw the
study. IT wrote the manuscript.