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

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

Rattachement africain : gb, be, nl, sg, ie, au, ar, fr, de, jp, us, it, at, se, pt, ca. Niveau de preuve : code pays fourni par la source.