100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report-Reference-Cited by-同舟云学术

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

Published:2021-11-11 Issue:20 Volume:385 Page:1868-1880
ISSN:0028-4793
Container-title:New England Journal of Medicine
language:en
Short-container-title:N Engl J Med

Author:

,Smedley Damian¹^ORCID,Smith Katherine R.¹,Martin Antonio¹,Thomas Ellen A.¹,McDonagh Ellen M.¹,Cipriani Valentina¹^ORCID,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 Emily¹^ORCID,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 Stefan¹^ORCID,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 James¹^ORCID,Woods Kerrie¹^ORCID,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.¹^ORCID,Haendel Melissa¹,Simpson Michael A.¹,Banka Siddharth¹,Clayton-Smith Jill¹,Douzgou Sofia¹,Hall Georgina¹,Thomas Huw B.¹^ORCID,O’Keefe Raymond T.¹,Michaelides Michel¹,Moore Anthony T.¹,Malka Sam¹,Pontikos Nikolas¹^ORCID,Browning Andrew C.¹,Straub Volker¹,Gorman Gráinne S.¹^ORCID,Horvath Rita¹,Quinton Richard¹,Schaefer Andrew M.¹,Yu-Wai-Man Patrick¹,Turnbull Doug M.¹,McFarland Robert¹,Taylor Robert W.¹^ORCID,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 Claire¹^ORCID,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.¹^ORCID,Elliott Perry¹^ORCID,Flinter Frances¹,Houlden Henry¹,Irving Melita¹,Newman William¹,Rahman Shamima¹^ORCID,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

Subject

General Medicine