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

Martin, Antonio ; Arno, Gavin ; Tucci, Arianna ; Chan, Georgia ; Williams, Hywel J ; Stirrups, Kathleen ; Ibanez, Kristina ; Moutsianas, Loukas ; Vestito, Letizia ; Wordsworth, Sarah ; Ashford, Sofie ; Spasic-Boskovic, Olivera ; Gurnell, Mark ; Burrows, Nigel ; Dewhurst, Eleanor ; Gräf, Stefan ; Mapeta, Rutendo ; Haworth, Andrea ; Savage, Helen ; Reese, Martin G ; Baple, Emma ; Boustred, Christopher ; de Burca, Anna ; Kasperaviciute, Dalia ; Polychronopoulos, Dimitris ; Matchan, Angela ; Tavares, Ana L T ; Turnbull, Clare ; Leigh, Sarah ; Leong, Ivone U S ; Wright, Caroline F ; Davies, Jim ; Crichton, Charles ; Welch, James ; Abulhoul, Lara ; Aurora, Paul ; Cleary, Maureen A ; Footitt, Emma ; Ganesan, Vijeya ; Compeyrot-Lacassagne, Sandrine ; Pilkington, Clarissa ; Thapar, Nikhil ; Worth, Austen ; Compton, Cecilia ; Fassihi, Hiva ; Haque, Eshika ; Izatt, Louise ; Rose, Sarah ; Shaw, Adam C ; Wolejko, Agata ; Burns, Gavin ; Hunter, Sarah ; Grocock, Russell J ; Humphray, Sean J ; Robinson, Peter N ; Haendel, Melissa ; Simpson, Michael A ; Clayton-Smith, Jill ; Douzgou, Sofia ; Hall, Georgina ; O'Keefe, Raymond T ; Michaelides, Michel ; Pontikos, Nikolas ; Straub, Volker ; Gorman, Gráinne S ; Schaefer, Andrew M ; Yu-Wai-Man, Patrick ; McFarland, Robert ; Taylor, Robert W ; O'Connor, Emer ; Morris, Huw R ; Wood, Nicholas W ; Campbell, Carolyn ; Camps, Carme ; Koelling, Nils ; Palles, Claire ; Patel, Smita ; Sen, Arjune ; Taylor, John ; Cacheiro, Pilar ; Jacobsen, Julius O ; Seaby, Eleanor G ; Ellard, Sian ; Wilson, Gill ; Beales, Phil ; Black, Graeme ; Burn, John ; Chinnery, Patrick F ; Newman, William ; Rahman, Shamima ; Taylor, Jenny C ; Webster, Andrew R ; Wilkie, Andrew O M ; Ouwehand, Willem H ; Raymond, F Lucy ; Chisholm, John ; Hill, Sue ; Bentley, David ; Rendon, Augusto ; Caulfield, Mark

The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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