100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
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Published:2021-11-11
Issue:20
Volume:385
Page:1868-1880
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ISSN:0028-4793
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Container-title:New England Journal of Medicine
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language:en
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Short-container-title:N Engl J Med
Author:
, Smedley Damian1ORCID, Smith Katherine R.1, Martin Antonio1, Thomas Ellen A.1, McDonagh Ellen M.1, Cipriani Valentina1ORCID, Ellingford Jamie M.1, Arno Gavin1, Tucci Arianna1, Vandrovcova Jana1, Chan Georgia1, Williams Hywel J.1, Ratnaike Thiloka1, Wei Wei1, Stirrups Kathleen1, Ibanez Kristina1, Moutsianas Loukas1, Wielscher Matthias1, Need Anna1, Barnes Michael R.1, Vestito Letizia1, Buchanan James1, Wordsworth Sarah1, Ashford Sofie1, Rehmström Karola1, Li Emily1ORCID, Fuller Gavin1, Twiss Philip1, Spasic-Boskovic Olivera1, Halsall Sally1, Floto R. Andres1, Poole Kenneth1, Wagner Annette1, Mehta Sarju G.1, Gurnell Mark1, Burrows Nigel1, James Roger1, Penkett Christopher1, Dewhurst Eleanor1, Gräf Stefan1ORCID, Mapeta Rutendo1, Kasanicki Mary1, Haworth Andrea1, Savage Helen1, Babcock Melanie1, Reese Martin G.1, Bale Mark1, Baple Emma1, Boustred Christopher1, Brittain Helen1, de Burca Anna1, Bleda Marta1, Devereau Andrew1, Halai Dina1, Haraldsdottir Eik1, Hyder Zerin1, Kasperaviciute Dalia1, Patch Christine1, Polychronopoulos Dimitris1, Matchan Angela1, Sultana Razvan1, Ryten Mina1, Tavares Ana L.T.1, Tregidgo Carolyn1, Turnbull Clare1, Welland Matthew1, Wood Suzanne1, Snow Catherine1, Williams Eleanor1, Leigh Sarah1, Foulger Rebecca E.1, Daugherty Louise C.1, Niblock Olivia1, Leong Ivone U.S.1, Wright Caroline F.1, Davies Jim1, Crichton Charles1, Welch James1ORCID, Woods Kerrie1ORCID, Abulhoul Lara1, Aurora Paul1, Bockenhauer Detlef1, Broomfield Alexander1, Cleary Maureen A.1, Lam Tanya1, Dattani Mehul1, Footitt Emma1, Ganesan Vijeya1, Grunewald Stephanie1, Compeyrot-Lacassagne Sandrine1, Muntoni Francesco1, Pilkington Clarissa1, Quinlivan Rosaline1, Thapar Nikhil1, Wallis Colin1, Wedderburn Lucy R.1, Worth Austen1, Bueser Teofila1, Compton Cecilia1, Deshpande Charu1, Fassihi Hiva1, Haque Eshika1, Izatt Louise1, Josifova Dragana1, Mohammed Shehla1, Robert Leema1, Rose Sarah1, Ruddy Deborah1, Sarkany Robert1, Say Genevieve1, Shaw Adam C.1, Wolejko Agata1, Habib Bishoy1, Burns Gavin1, Hunter Sarah1, Grocock Russell J.1, Humphray Sean J.1, Robinson Peter N.1ORCID, Haendel Melissa1, Simpson Michael A.1, Banka Siddharth1, Clayton-Smith Jill1, Douzgou Sofia1, Hall Georgina1, Thomas Huw B.1ORCID, O’Keefe Raymond T.1, Michaelides Michel1, Moore Anthony T.1, Malka Sam1, Pontikos Nikolas1ORCID, Browning Andrew C.1, Straub Volker1, Gorman Gráinne S.1ORCID, Horvath Rita1, Quinton Richard1, Schaefer Andrew M.1, Yu-Wai-Man Patrick1, Turnbull Doug M.1, McFarland Robert1, Taylor Robert W.1ORCID, O’Connor Emer1, Yip Janice1, Newland Katrina1, Morris Huw R.1, Polke James1, Wood Nicholas W.1, Campbell Carolyn1, Camps Carme1, Gibson Kate1, Koelling Nils1, Lester Tracy1, Németh Andrea H.1, Palles Claire1ORCID, Patel Smita1, Roy Noemi B.A.1, Sen Arjune1, Taylor John1, Cacheiro Pilar1, Jacobsen Julius O.1, Seaby Eleanor G.1, Davison Val1, Chitty Lyn1, Douglas Angela1, Naresh Kikkeri1, McMullan Dom1, Ellard Sian1, Temple I. Karen1, Mumford Andrew D.1, Wilson Gill1, Beales Phil1, Bitner-Glindzicz Maria1, Black Graeme1, Bradley John R.1, Brennan Paul1, Burn John1, Chinnery Patrick F.1ORCID, Elliott Perry1ORCID, Flinter Frances1, Houlden Henry1, Irving Melita1, Newman William1, Rahman Shamima1ORCID, Sayer John A.1, Taylor Jenny C.1, Webster Andrew R.1, Wilkie Andrew O.M.1, Ouwehand Willem H.1, Raymond F. Lucy1, Chisholm John1, Hill Sue1, Bentley David1, Scott Richard H.1, Fowler Tom1, Rendon Augusto1, Caulfield Mark1
Affiliation:
1. From Genomics England (D.S., K.R.S., A.M., E.A.T., E.M.M., A.T., G.C., K.I., L.M., M. Wielscher, A.N., M. Bale, E.B., C.B., H.B., M. Bleda, A. Devereau, D.H., E. Haraldsdottir, Z.H., D.K., C. Patch, D.P., A.M., R. Sultana, M.R., A.L.T.T., C. Tregidgo, C. Turnbull, M. Welland, S. Wood, C.S., E.W., S.L., R.E.F., L.C.D., O.N., I.U.S.L., C.F.W., J.C., R.H.S., T.F., A.R., M.C.), the William Harvey Research Institute, Queen Mary University of London (D.S., K.R.S., V.C., A.T., L.M., M.R.B., D.K., S. Wood, P.C.,...
Funder
Department of Health and Social Care NIH Office of the Director National Institute for Health Research Wellcome Trust Medical Research Council Cancer Research U.K. NHS England
Publisher
Massachusetts Medical Society
Cited by
420 articles.
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