100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Authors: Damian Smedley, Katherine R Smith, Antonio Martin, Ellen A Thomas, Ellen M McDonagh, Valentina Cipriani, Jamie M Ellingford, Gavin Arno, Arianna Tucci, Jana Vandrovcova, Georgia Chan, Hywel J Williams, Thiloka Ratnaike, Wei Wei, Kathleen Stirrups, Kristina Ibanez, Loukas Moutsianas, Matthias Wielscher, Anna Need, Michael R Barnes, Letizia Vestito, James Buchanan, Sarah Wordsworth, Sofie Ashford, Karola Rehmström, Emily Li, Gavin Fuller, Philip Twiss, Olivera Spasic-Boskovic, Sally Halsall, R Andres Floto, Kenneth Poole, Annette Wagner, Sarju G Mehta, Mark Gurnell, Nigel Burrows, Roger James, Christopher Penkett, Eleanor Dewhurst, Stefan Gräf, Rutendo Mapeta, Mary Kasanicki, Andrea Haworth, Helen Savage, Melanie Babcock, Martin G Reese, Mark Bale, Emma Baple, Christopher Boustred, Helen Brittain, Anna de Burca, Marta Bleda, Andrew Devereau, Dina Halai, Eik Haraldsdottir, Zerin Hyder, Dalia Kasperaviciute, Christine Patch, Dimitris Polychronopoulos, Angela Matchan, Razvan Sultana, Mina Ryten, Ana L T Tavares, Carolyn Tregidgo, Clare Turnbull, Matthew Welland, Suzanne Wood, Catherine Snow, Eleanor Williams, Sarah Leigh, Rebecca E Foulger, Louise C Daugherty, Olivia Niblock, Ivone U S Leong, Caroline F Wright, Jim Davies, Charles Crichton, James Welch, Kerrie Woods, Lara Abulhoul, Paul Aurora, Detlef Bockenhauer, Alexander Broomfield, Maureen A Cleary, Tanya Lam, Mehul Dattani, Emma Footitt, Vijeya Ganesan, Stephanie Grunewald, Sandrine Compeyrot-Lacassagne, Francesco Muntoni, Clarissa Pilkington, Rosaline Quinlivan, Nikhil Thapar, Colin Wallis, Lucy R Wedderburn, Austen Worth, Teofila Bueser, Cecilia Compton, Charu Deshpande, Hiva Fassihi, Eshika Haque, Louise Izatt, Dragana Josifova, Shehla Mohammed, Leema Robert, Sarah Rose, Deborah Ruddy, Robert Sarkany, Genevieve Say, Adam C Shaw, Agata Wolejko, Bishoy Habib, Gavin Burns, Sarah Hunter, Russell J Grocock, Sean J Humphray, Peter N Robinson, Melissa Haendel, Michael A Simpson, Siddharth Banka, Jill Clayton-Smith, Sofia Douzgou, Georgina Hall, Huw B Thomas, Raymond T O'Keefe, Michel Michaelides, Anthony T Moore, Sam Malka, Nikolas Pontikos, Andrew C Browning, Volker Straub, Gráinne S Gorman, Rita Horvath, Richard Quinton, Andrew M Schaefer, Patrick Yu-Wai-Man, Doug M Turnbull, Robert McFarland, Robert W Taylor, Emer O'Connor, Janice Yip, Katrina Newland, Huw R Morris, James Polke, Nicholas W Wood, Carolyn Campbell, Carme Camps, Kate Gibson, Nils Koelling, Tracy Lester, Andrea H Németh, Claire Palles, Smita Patel, Noemi B A Roy, Arjune Sen, John Taylor, Pilar Cacheiro, Julius O Jacobsen, Eleanor G Seaby, Val Davison, Lyn Chitty, Angela Douglas, Kikkeri Naresh, Dom McMullan, Sian Ellard, I Karen Temple, Andrew D Mumford, Gill Wilson, Phil Beales, Maria Bitner-Glindzicz, Graeme Black, John R Bradley, Paul Brennan, John Burn, Patrick F Chinnery, Perry Elliott, Frances Flinter, Henry Houlden, Melita Irving, William Newman, Shamima Rahman, John A Sayer, Jenny C Taylor, Andrew R Webster, Andrew O M Wilkie, Willem H Ouwehand, F Lucy Raymond, John Chisholm, Sue Hill, David Bentley, Richard H Scott, Tom Fowler, Augusto Rendon, Mark Caulfield
Journal: New England Journal of Medicine (2021)

The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection.