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Full Record Details
Persistent URL
http://purl.org/net/epubs/work/52365734
Record Status
Checked
Record Id
52365734
Title
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Contributors
D Smedley (From Genomics England (D.S.)
,
KR Smith (From Genomics England (D.S.)
,
A Martin (From Genomics England (D.S.)
,
EA Thomas (From Genomics England (D.S.)
,
EM McDonagh (From Genomics England (D.S.)
,
V Cipriani (From Genomics England (D.S.)
,
JM Ellingford (From Genomics England (D.S.)
,
G Arno (From Genomics England (D.S.)
,
A Tucci (From Genomics England (D.S.)
,
J Vandrovcova (From Genomics England (D.S.)
,
G Chan (From Genomics England (D.S.)
,
HJ Williams (From Genomics England (D.S.)
,
T Ratnaike (From Genomics England (D.S.)
,
W Wei (From Genomics England (D.S.)
,
K Stirrups (From Genomics England (D.S.)
,
K Ibanez (From Genomics England (D.S.)
,
L Moutsianas (From Genomics England (D.S.)
,
M Wielscher (From Genomics England (D.S.)
,
A Need (From Genomics England (D.S.)
,
MR Barnes (From Genomics England (D.S.)
,
L Vestito (From Genomics England (D.S.)
,
J Buchanan (From Genomics England (D.S.)
,
S Wordsworth (From Genomics England (D.S.)
,
S Ashford (From Genomics England (D.S.)
,
K Rehmström (From Genomics England (D.S.)
,
E Li (From Genomics England (D.S.)
,
G Fuller (From Genomics England (D.S.)
,
P Twiss (From Genomics England (D.S.)
,
O Spasic-Boskovic (From Genomics England (D.S.)
,
S Halsall (From Genomics England (D.S.)
,
RA Floto (From Genomics England (D.S.)
,
K Poole (From Genomics England (D.S.)
,
A Wagner (From Genomics England (D.S.)
,
SG Mehta (From Genomics England (D.S.)
,
M Gurnell (From Genomics England (D.S.)
,
N Burrows (From Genomics England (D.S.)
,
R James (From Genomics England (D.S.)
,
C Penkett (From Genomics England (D.S.)
,
E Dewhurst (From Genomics England (D.S.)
,
S Gräf (From Genomics England (D.S.)
,
R Mapeta (From Genomics England (D.S.)
,
M Kasanicki (From Genomics England (D.S.)
,
A Haworth (From Genomics England (D.S.)
,
H Savage (From Genomics England (D.S.)
,
M Babcock (From Genomics England (D.S.)
,
MG Reese (From Genomics England (D.S.)
,
M Bale (From Genomics England (D.S.)
,
E Baple (From Genomics England (D.S.)
,
C Boustred (From Genomics England (D.S.)
,
H Brittain (From Genomics England (D.S.)
,
A de Burca (From Genomics England (D.S.)
,
M Bleda (From Genomics England (D.S.)
,
A Devereau (From Genomics England (D.S.)
,
D Halai (From Genomics England (D.S.)
,
E Haraldsdottir (From Genomics England (D.S.)
,
Z Hyder (From Genomics England (D.S.)
,
D Kasperaviciute (From Genomics England (D.S.)
,
C Patch (From Genomics England (D.S.)
,
D Polychronopoulos (From Genomics England (D.S.)
,
A Matchan (From Genomics England (D.S.)
,
R Sultana (From Genomics England (D.S.)
,
M Ryten (From Genomics England (D.S.)
,
AL Tavares (From Genomics England (D.S.)
,
C Tregidgo (From Genomics England (D.S.)
,
C Turnbull (From Genomics England (D.S.)
,
M Welland (From Genomics England (D.S.)
,
S Wood (From Genomics England (D.S.)
,
C Snow (From Genomics England (D.S.)
,
E Williams (From Genomics England (D.S.)
,
S Leigh (From Genomics England (D.S.)
,
RE Foulger (From Genomics England (D.S.)
,
LC Daugherty (From Genomics England (D.S.)
,
O Niblock (From Genomics England (D.S.)
,
IU Leong (From Genomics England (D.S.)
,
CF Wright (From Genomics England (D.S.)
,
J Davies (From Genomics England (D.S.)
,
C Crichton (From Genomics England (D.S.)
,
J Welch (From Genomics England (D.S.)
,
K Woods (From Genomics England (D.S.)
,
L Abulhoul (From Genomics England (D.S.)
,
P Aurora (From Genomics England (D.S.)
,
D Bockenhauer (From Genomics England (D.S.)
,
A Broomfield (From Genomics England (D.S.)
,
MA Cleary (From Genomics England (D.S.)
,
T Lam (From Genomics England (D.S.)
,
M Dattani (From Genomics England (D.S.)
,
E Footitt (From Genomics England (D.S.)
,
V Ganesan (From Genomics England (D.S.)
,
S Grunewald (From Genomics England (D.S.)
,
S Compeyrot-Lacassagne (From Genomics England (D.S.)
,
F Muntoni (From Genomics England (D.S.)
,
C Pilkington (From Genomics England (D.S.)
,
R Quinlivan (From Genomics England (D.S.)
,
N Thapar (From Genomics England (D.S.)
,
C Wallis (From Genomics England (D.S.)
,
LR Wedderburn (From Genomics England (D.S.)
,
A Worth (From Genomics England (D.S.)
,
T Bueser (From Genomics England (D.S.)
,
C Compton (From Genomics England (D.S.)
,
C Deshpande (From Genomics England (D.S.)
,
H Fassihi (From Genomics England (D.S.)
,
E Haque (From Genomics England (D.S.)
,
L Izatt (From Genomics England (D.S.)
,
D Josifova (From Genomics England (D.S.)
,
S Mohammed (From Genomics England (D.S.)
,
L Robert (From Genomics England (D.S.)
,
S Rose (From Genomics England (D.S.)
,
D Ruddy (From Genomics England (D.S.)
,
R Sarkany (From Genomics England (D.S.)
,
G Say (From Genomics England (D.S.)
,
AC Shaw (From Genomics England (D.S.)
,
A Wolejko (From Genomics England (D.S.)
,
B Habib (From Genomics England (D.S.)
,
G Burns (From Genomics England (D.S.)
,
S Hunter (From Genomics England (D.S.)
,
RJ Grocock (From Genomics England (D.S.)
,
SJ Humphray (From Genomics England (D.S.)
,
PN Robinson (From Genomics England (D.S.)
,
M Haendel (From Genomics England (D.S.)
,
MA Simpson (From Genomics England (D.S.)
,
S Banka (From Genomics England (D.S.)
,
J Clayton-Smith (From Genomics England (D.S.)
,
S Douzgou (From Genomics England (D.S.)
,
G Hall (From Genomics England (D.S.)
,
HB Thomas (From Genomics England (D.S.)
,
RT O’Keefe (From Genomics England (D.S.)
,
M Michaelides (From Genomics England (D.S.)
,
AT Moore (From Genomics England (D.S.)
,
S Malka (From Genomics England (D.S.)
,
N Pontikos (From Genomics England (D.S.)
,
AC Browning (From Genomics England (D.S.)
,
V Straub (From Genomics England (D.S.)
,
GS Gorman (From Genomics England (D.S.)
,
R Horvath (From Genomics England (D.S.)
,
R Quinton (From Genomics England (D.S.)
,
AM Schaefer (From Genomics England (D.S.)
,
P Yu-Wai-Man (From Genomics England (D.S.)
,
DM Turnbull (From Genomics England (D.S.)
,
R McFarland (From Genomics England (D.S.)
,
RW Taylor (From Genomics England (D.S.)
,
E O’Connor (From Genomics England (D.S.)
,
J Yip (From Genomics England (D.S.)
,
K Newland (From Genomics England (D.S.)
,
HR Morris (From Genomics England (D.S.)
,
J Polke (From Genomics England (D.S.)
,
NW Wood (From Genomics England (D.S.)
,
C Campbell (From Genomics England (D.S.)
,
C Camps (From Genomics England (D.S.)
,
K Gibson (From Genomics England (D.S.)
,
N Koelling (From Genomics England (D.S.)
,
T Lester (From Genomics England (D.S.)
,
AH Németh (From Genomics England (D.S.)
,
C Palles (From Genomics England (D.S.)
,
S Patel (From Genomics England (D.S.)
,
NB Roy (From Genomics England (D.S.)
,
A Sen (From Genomics England (D.S.)
,
J Taylor (From Genomics England (D.S.)
,
P Cacheiro (From Genomics England (D.S.)
,
JO Jacobsen (From Genomics England (D.S.)
,
EG Seaby (From Genomics England (D.S.)
,
V Davison (From Genomics England (D.S.)
,
L Chitty (From Genomics England (D.S.)
,
A Douglas (From Genomics England (D.S.)
,
K Naresh (From Genomics England (D.S.)
,
D McMullan (From Genomics England (D.S.)
,
S Ellard (From Genomics England (D.S.)
,
IK Temple (From Genomics England (D.S.)
,
AD Mumford (From Genomics England (D.S.)
,
G Wilson (From Genomics England (D.S.)
,
P Beales (From Genomics England (D.S.)
,
M Bitner-Glindzicz (From Genomics England (D.S.)
,
G Black (From Genomics England (D.S.)
,
JR Bradley (From Genomics England (D.S.)
,
P Brennan (From Genomics England (D.S.)
,
J Burn (From Genomics England (D.S.)
,
PF Chinnery (From Genomics England (D.S.)
,
P Elliott (From Genomics England (D.S.)
,
F Flinter (From Genomics England (D.S.)
,
H Houlden (From Genomics England (D.S.)
,
M Irving (From Genomics England (D.S.)
,
W Newman (From Genomics England (D.S.)
,
S Rahman (From Genomics England (D.S.)
,
JA Sayer (From Genomics England (D.S.)
,
JC Taylor (From Genomics England (D.S.)
,
AR Webster (From Genomics England (D.S.)
,
AO Wilkie (From Genomics England (D.S.)
,
WH Ouwehand (From Genomics England (D.S.)
,
FL Raymond (From Genomics England (D.S.)
,
J Chisholm (From Genomics England (D.S.)
,
S Hill (From Genomics England (D.S.)
,
D Bentley (From Genomics England (D.S.)
,
RH Scott (From Genomics England (D.S.)
,
T Fowler (From Genomics England (D.S.)
,
A Rendon (From Genomics England (D.S.)
,
M Caulfield (From Genomics England (D.S.)
Abstract
Organisation
Keywords
Funding Information
DH
;
OD
(1R24OD011883);
OD
(5-UM1-HG006370);
NIHR
;
WT
;
MRC
;
CRUK
;
Government of the United Kingdom
Related Research Object(s):
Licence Information:
Language
English (EN)
Type
Details
URI(s)
Local file(s)
Year
Journal Article
New England Journal of Medicine 385, no. 20 (2021): 1868-1880.
doi:10.1056/NEJMoa2035790
2021
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