[*]
Full list of authors and affiliations appears at the end of the paper.
The authors of this manuscript are: Nick Craddock
*
1
, Matthew E Hurles
*
2
, Niall Cardin
3
, Richard D Pearson
4
, Vincent Plagnol
5
, Samuel Robson
2
, Damjan Vukcevic
4
, Chris Barnes
2
, Donald F Conrad
2
, Eleni Giannoulatou
3
, Chris Holmes
3
, Jonathan L Marchini
3
, Kathy Stirrups
2
, Martin D Tobin
6
, Louise V Wain
6
, Chris Yau
3
, Jan Aerts
2
, Tariq Ahmad
7
, T Daniel Andrews
2
, Hazel Arbury
2
, Anthony Attwood
2
8
9
, Adam Auton
3
, Stephen G Ball
10
, Anthony J Balmforth
10
, Jeffrey C Barrett
2
, Inês Barroso
2
, Anne Barton
11
, Amanda J Bennett
12
, Sanjeev Bhaskar
2
, Katarzyna Blaszczyk
13
, John Bowes
11
, Oliver J Brand
14
, Peter S Braund
15
, Francesca Bredin
16
, Gerome Breen
17
18
, Morris J Brown
19
, Ian N Bruce
11
, Jaswinder Bull
20
, Oliver S Burren
5
, John Burton
2
, Jake Byrnes
4
, Sian Caesar
21
, Chris M Clee
2
, Alison J Coffey
2
, John MC Connell
22
, Jason D Cooper
5
, Anna F Dominiczak
22
, Kate Downes
5
, Hazel E Drummond
23
, Darshna Dudakia
20
, Andrew Dunham
2
, Bernadette Ebbs
20
, Diana Eccles
24
, Sarah Edkins
2
, Cathryn Edwards
25
, Anna Elliot
20
, Paul Emery
26
, David M Evans
27
, Gareth Evans
28
, Steve Eyre
11
, Anne Farmer
18
, I Nicol Ferrier
29
, Lars Feuk
30
31
, Tomas Fitzgerald
2
, Edward Flynn
11
, Alistair Forbes
32
, Liz Forty
1
, Jayne A Franklyn
14
33
, Rachel M Freathy
34
, Polly Gibbs
20
, Paul Gilbert
11
, Omer Gokumen
35
, Katherine Gordon-Smith
1
21
, Emma Gray
2
, Elaine Green
1
, Chris J Groves
12
, Detelina Grozeva
1
, Rhian Gwilliam
2
, Anita Hall
20
, Naomi Hammond
2
, Matt Hardy
5
, Pile Harrison
36
, Neelam Hassanali
12
, Husam Hebaishi
2
, Sarah Hines
20
, Anne Hinks
11
, Graham A Hitman
37
, Lynne Hocking
38
, Eleanor Howard
2
, Philip Howard
39
, Joanna MM Howson
5
, Debbie Hughes
20
, Sarah Hunt
2
, John D Isaacs
40
, Mahim Jain
4
, Derek P Jewell
41
, Toby Johnson
39
, Jennifer D Jolley
8
9
, Ian R Jones
1
, Lisa A Jones
21
, George Kirov
1
, Cordelia F Langford
2
, Hana Lango-Allen
34
, G Mark Lathrop
42
, James Lee
16
, Kate L Lee
39
, Charlie Lees
23
, Kevin Lewis
2
, Cecilia M Lindgren
4
12
, Meeta Maisuria-Armer
5
, Julian Maller
4
, John Mansfield
43
, Paul Martin
11
, Dunecan C O Massey
16
, Wendy L McArdle
44
, Peter McGuffin
18
, Kirsten E McLay
2
, Alex Mentzer
45
, Michael L Mimmack
2
, Ann E Morgan
46
, Andrew P Morris
4
, Craig Mowat
47
, Simon Myers
3
, William Newman
28
, Elaine R Nimmo
23
, Michael C O'Donovan
1
, Abiodun Onipinla
39
, Ifejinelo Onyiah
2
, Nigel R Ovington
5
, Michael J Owen
1
, Kimmo Palin
2
, Kirstie Parnell
34
, David Pernet
20
, John RB Perry
34
, Anne Phillips
47
, Dalila Pinto
30
, Natalie J Prescott
13
, Inga Prokopenko
4
12
, Michael A Quail
2
, Suzanne Rafelt
15
, Nigel W Rayner
4
12
, Richard Redon
2
48
, David M Reid
38
, Anthony Renwick
20
, Susan M Ring
44
, Neil Robertson
4
12
, Ellie Russell
1
, David St Clair
17
, Jennifer G Sambrook
8
9
, Jeremy D Sanderson
45
, Helen Schuilenburg
5
, Carol E Scott
2
, Richard Scott
20
, Sheila Seal
20
, Sue Shaw-Hawkins
39
, Beverley M Shields
34
, Matthew J Simmonds
14
, Debbie J Smyth
5
, Elilan Somaskantharajah
2
, Katarina Spanova
20
, Sophia Steer
49
, Jonathan Stephens
8
9
, Helen E Stevens
5
, Millicent A Stone
50
51
, Zhan Su
3
, Deborah PM Symmons
11
, John R Thompson
6
, Wendy Thomson
11
, Mary E Travers
12
, Clare Turnbull
20
, Armand Valsesia
2
, Mark Walker
52
, Neil M Walker
5
, Chris Wallace
5
, Margaret Warren-Perry
20
, Nicholas A Watkins
8
9
, John Webster
53
, Michael N Weedon
34
, Anthony G Wilson
54
, Matthew Woodburn
5
, B Paul Wordsworth
55
, Allan H Young
29
56
, Eleftheria Zeggini
2
4
, Nigel P Carter
2
, Timothy M Frayling
34
, Charles Lee
35
, Gil McVean
3
, Patricia B Munroe
39
, Aarno Palotie
2
, Stephen J Sawcer
57
, Stephen W Scherer
30
58
, David P Strachan
59
, Chris Tyler-Smith
2
, Matthew A Brown
55
60
, Paul R Burton
6
, Mark J Caulfield
39
, Alastair Compston
57
, Martin Farrall
61
, Stephen CL Gough
14
33
, Alistair S Hall
10
, Andrew T Hattersley
34
62
, Adrian VS Hill
4
, Christopher G Mathew
13
, Marcus Pembrey
63
, Jack Satsangi
23
, Michael R Stratton
2
20
, Jane Worthington
11
, Panos Deloukas
2
, Audrey Duncanson
64
, Dominic P Kwiatkowski
2
4
, Mark I McCarthy
4
12
65
, Willem H Ouwehand
2
8
9
, Miles Parkes
16
, Nazneen Rahman
20
, John A Todd
5
, Nilesh J Samani
15
66
, Peter Donnelly
4
3
.