Whole-genome sequencing of patients with rare diseases in a national health system

作者：Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick Francis Chinnery, Peter H. Dixon, Daniel Philip Gale, Roger James, Ania B. Koziell, Michael A. Laffan, Adam P. Levine, Eamonn Richard Maher, Hugh Stephen Markus, Joannella Morales, Nicholas W. Morrell, Andrew David Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia T. Richardson, Irene A.G. Roberts, Noemi B. A. Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Yan Ying Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh C Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R. Bentley, NIHR BioResource for the 100,000 Genomes Project, Stephen J. Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David John Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Philip L. Beales, David Bennett, David R. Bentley, Agnieszka Bierżyńska, Tina T. Biss, Maria A. K. Bitner-Glindzicz, Graeme Charles M. Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome D. Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S Buckland, Teofila ‘Tootie’ Bueser, Carmen Bugarin Diz, John Burn, Siobhan Oisin Burns, Oliver S. Burren, Nigel Burrows, Paul Calleja, Carolyn Campbell, Gerald Carr‐White, Keren Carss, Ruth Therese Casey, Mark J. Caulfield, Jenny Chambers, John C. Chambers, Melanie Chan, Calvin Cheah, Floria Cheng, Patrick Francis Chinnery, Manali Chitre, Martin T. Christian, Colin Church, Jill Clayton‐Smith, Maureen Cleary, Naomi Clements Brod, Gerry Coghlan, Elizabeth Colby, Trevor R. P. Cole, Janine Collins, Peter W. Collins, Camilla Colombo, Cecilia J. Compton, Robin Condliffe, Stuart A. Cook, H. Terence Cook, Nichola Cooper, Paul A. Corris, Abigail Furnell, Fiona M Cunningham, Nicola S. Curry, Antony J. Cutler, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Dean Davis, Anthony De Soyza, Sri V. V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, David Edgar, Karen L. Edwards, William Egner, Melanie N. Ekani, Perry Mark Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiú, D. Gareth Evans, Gillian Evans, Tamara Everington, Mélanie Eyries, Hiva Fassihi, Rémi Favier, Jack Findhammer, Debra Fletcher, Frances A. Flinter, R. Andrés Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Daniel Philip Gale, Henning J. Gall, Vijeya Ganesan, Michael Gattens, Claire Geoghegan, Terence S. A. Gerighty, Ali G. Gharavi, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C Gilmour, Barbara Girerd, Nicholas Gleadall, Sarah Goddard, David B. Goldstein, Keith Gomez, Pavels Gordins, David Yunus Gosal, Stefan Gräf, Jodie Graham, Luigi Grassi, Daniel Greene, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip G. Griffiths, Sofia Grigoriadou, Russell Grocock, Detelina Grozeva, Mark Gurnell, Scott J. Hackett, Charaka Hadinnapola, William M. Hague, Rosie Hague, Matthias Haimel, Matthew Hall, HELEN LOUISE HANSON, Eshika Haque, Kirsty Harkness, Andrew Robert Harper, Claire Louise Harris, Daniel P. Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Simon T. Holden, Rita Horváth, Henry Houlden, Arjan C. Houweling, Luke Howard, Fengyuan Hu, Gavin Hudson, Joseph Hughes, Aarnoud P. Huissoon, Marc Humbert, Sean Humphray, Sarah Hunter, Matthew E. Hurles, Melita D. Irving, Louise Izatt, Roger James, Sally Ann Johnson, Stephen R.A. Jolles, Jennifer A. Jolley, Dragana J. Josifova, Neringa Jurkutė, Tim Karten, Johannes Karten, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M. Kelly, Wilf Kelsall, Carly Kempster, David Gerard Kiely, Nathalie Kingston, Robert Klima, Nils Koelling, Myrto A. Kostadima, Gábor Kovács, Ania B. Koziell, Roman Kreuzhuber, Taco Willem Kuijpers, Ajith Kumar, Dinakantha S Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona I. Lalloo, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, D. Mark Layton, Nicholas Lench, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul Lyons, Rajiv D. Machado, Robert V. MacKenzie Ross, Bella Madan, Eamonn Richard Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo P. Mapeta, Kevin J. Marchbank, Stephen D. Marks, Hugh Stephen Markus, Hanns–Ulrich Marschall, Andrew G. Marshall, Jennifer M. Martin, Mary Mathias, Emma L. Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Aoife McMahon, Stuart Meacham, Adam J. Mead, Ignacio Medina Castello, Karyn Mégy, Sarju G. Mehta, Michel Michaelides, Carolyn M. Millar, Shehla N. Mohammed, Shahin Moledina, David Montani, Anthony T. Moore, Joannella Morales, Nicholas W. Morrell, Monika Mozere, Keith W. Muir, Andrew David Mumford, Andrea Hilary Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Gwen Obaji, Chris A. Odhams, Steven Okoli, Andrea Olschewski, Horst Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem Hendrik Ouwehand, Claire Palles, Sofia Papadia, Soo‐Mi Park, David A.D. Parry, Smita Y. Patel, Joan Paterson, Andrew J. Peacock, Simon H. S. Pearce, John F. Peden, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke‐Żaba, Romina Petersen, Clarissa Pilkington, Kenneth E. S. Poole, Radhika Prathalingam, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Stuart Rankin, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Christine A. Rees, Augusto Rendon, Tara F. Renton, Christopher J. Rhodes, Andrew S.C. Rice, Sylvia T. Richardson, Alex G Richter, Leema Robert, Irene A.G. Roberts, Anthony S. Rogers, Sarah Jane Rose, Robert I. Ross-Russell, Catherine Roughley, Noemi B. A. Roy, Deborah Ruddy, Omid Sadeghi‐Alavijeh, Moin A. Saleem, Nilesh J. Samani, Crina Samarghitean, Alba Sanchis‐Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon C. Satchell, Sinisa Savic, John Andrew Sayer, Genevieve Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard H. Scott, Marie Scully, Claire Searle, Werner Seeger, Arjune Sen, William A. Sewell, Denis Seyres, Neil V. Shah, Olga Shamardina, Susan Shapiro, Adam C. Shaw, Patrick Short, Keith R. Sibson, Lucy E. Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian P. Smedley, Katherine R. Smith, Kenneth G. C. Smith, Katie M.G. Snape, Nicole Soranzo, Florent Soubrier, Laura Southgate, Olivera Spasić-Bošković, Simon Staines, Emily Staples, Hannah Stark, Jonathan C. Stephens, Charles A. Steward, Kathleen E. Stirrups, Alexander Stuckey, Jay Suntharalingam, Emilia M. Swietlik, Petros Syrris, Robert Campbell Tait, Kate Talks, Rhea Yan Ying Tan, Katie Tate, John Taylor, Jenny C. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, Ellen Thomas, David Thomas, Moira J. Thomas, Patrick Thomas, Kate L. Thomson, Adrian J. Thrasher, Glen Threadgold, Chantal Thys, Tobias Tilly, Marc D. Tischkowitz, Catherine Titterton, John A. Todd, Cheng‐Hock Toh, Bas Tolhuis, Ian P.M. Tomlinson, Mark R. Toshner, Matthew Traylor, Carmen Treacy, Paul Treadaway, Richard C. Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Philip Twiss, Tom A Vale, Chris Van Geet, Natalie R. van Zuydam, Maarten Vandekuilen, Anthony M. Vandersteen, Marta Vazquez‐Lopez, Julie von Ziegenweidt, Anton Vonk Noordegraaf, Annette Wagner, Quinten Waisfisz, Suellen M. Walker, Neil M Walker, Klaudia Walter, James S. Ware, Hugh C Watkins, C. Ian F. Watt, Andrew R. Webster, Lucy R. Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John‐Paul Westwood, John Wharton, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Martin R. Wilkins, Catherine Williamson, Brian T. Wilson, Edwin Kwan Soon Wong, Nicholas Wood, Yvette K. Wood, Christopher Geoffrey Woods, Emma Roisin Woodward, Stephen John Wort, Austen J. J. Worth, Michael J. Wright, Katherine Yates, Patrick F. K. Yong, Timothy Mark Young, Ping Yu, Patrick Yu‐Wai‐Man, Eliska Zlamalova, Nathalie Kingston, Neil M Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen E. Stirrups, F. Lucy Raymond, Willem Hendrik Ouwehand · 发表于：Nature · 年份：2020 · DOI：10.1038/s41586-020-2434-2 · 被引用次数：588 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Genetic factors in colorectal cancer