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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