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

Title:	Whole-genome sequencing of patients with rare diseases in a national health system
Authors:	Turro, Ernest^{Aff1, Aff2, Aff3, IDs4158602024342_cor1}; Astle, William J.^{Aff3, Aff4}; Megy, Karyn^{Aff1, Aff2}; Gräf, Stefan^{Aff1, Aff2, Aff5}; Greene, Daniel^{Aff1, Aff3}; Shamardina, Olga^{Aff1, Aff2}; Allen, Hana Lango^{Aff1, Aff2}; Sanchis-Juan, Alba^{Aff1, Aff2}; Frontini, Mattia^{Aff1, Aff4, Aff6}; Thys, Chantal^Aff7; Stephens, Jonathan^{Aff1, Aff2}; Mapeta, Rutendo^{Aff1, Aff2}; Burren, Oliver S.^{Aff5, Aff8}; Downes, Kate^{Aff1, Aff2}; Haimel, Matthias^{Aff1, Aff2, Aff5}; Tuna, Salih^{Aff1, Aff2}; Deevi, Sri V. V.^{Aff1, Aff2}; Aitman, Timothy J.^{Aff9, Aff10}; Bennett, David L.^{Aff11, Aff12}; Calleja, Paul^Aff13; Carss, Keren^{Aff1, Aff2}; Caulfield, Mark J.^{Aff14, Aff15}; Chinnery, Patrick F.^{Aff2, Aff16, Aff17}; Dixon, Peter H.^Aff18; Gale, Daniel P.^{Aff19, Aff20}; James, Roger^{Aff1, Aff2}; Koziell, Ania^{Aff21, Aff22}; Laffan, Michael A.^{Aff23, Aff24}; Levine, Adam P.^Aff19; Maher, Eamonn R.^{Aff25, Aff26, Aff27}; Markus, Hugh S.^Aff28; Morales, Joannella^Aff29; Morrell, Nicholas W.^{Aff2, Aff5}; Mumford, Andrew D.^{Aff30, Aff31}; Ormondroyd, Elizabeth^{Aff12, Aff32}; Rankin, Stuart^Aff13; Rendon, Augusto^{Aff1, Aff14}; Richardson, Sylvia^Aff3; Roberts, Irene^{Aff12, Aff33, Aff34}; Roy, Noemi B. A.^{Aff12, Aff33, Aff35}; Saleem, Moin A.^{Aff36, Aff37}; Smith, Kenneth G. C.^{Aff5, Aff8}; Stark, Hannah^{Aff2, Aff38}; Tan, Rhea Y. Y.^Aff28; Themistocleous, Andreas C.^Aff11; Thrasher, Adrian J.^Aff39; Watkins, Hugh^{Aff32, Aff35, Aff40}; Webster, Andrew R.^{Aff41, Aff42}; Wilkins, Martin R.^Aff43; Williamson, Catherine^{Aff18, Aff44}; Whitworth, James^{Aff25, Aff26, Aff27}; Humphray, Sean^Aff45; Bentley, David R.^Aff45; Kingston, Nathalie^{Aff1, Aff2}; Walker, Neil^{Aff1, Aff2}; Bradley, John R.^{Aff2, Aff5, Aff26, Aff46, Aff47}; Ashford, Sofie^{Aff2, Aff38}; Penkett, Christopher J.^{Aff1, Aff2}; Freson, Kathleen^Aff7; Stirrups, Kathleen E.^{Aff1, Aff2}; Raymond, F. Lucy^{Aff2, Aff25, IDs4158602024342_cor62}; Ouwehand, Willem H.^{Aff1, Aff2, Aff4, Aff6, Aff48, IDs4158602024342_cor63}; Abbs, Stephen^Aff49; Abulhoul, Lara^Aff50; Adlard, Julian^Aff51; Ahmed, Munaza^Aff52; Alachkar, Hana^Aff53; Allsup, David J.^{Aff54, Aff55}; Almeida-King, Jeff^Aff29; Ancliff, Philip^Aff50; Antrobus, Richard^Aff56; Armstrong, Ruth^{Aff25, Aff26, Aff27}; Arno, Gavin^{Aff41, Aff42}; Attwood, Anthony^{Aff1, Aff2}; Aurora, Paul^Aff50; Babbs, Christian^{Aff12, Aff33}; Bacchelli, Chiara^{Aff12, Aff39}; Bakchoul, Tamam^Aff57; Banka, Siddharth^{Aff58, Aff59}; Bariana, Tadbir^{Aff60, Aff61}; Barwell, Julian^{Aff62, Aff63}; Batista, Joana^{Aff1, Aff2}; Baxendale, Helen E.^{Aff5, Aff64, Aff65, Aff66}; Beales, Phil L.^{Aff50, Aff67}; Bierzynska, Agnieszka^Aff36; Biss, Tina^Aff68; Bitner-Glindzicz, Maria A. K.^{Aff50, Aff67}; Black, Graeme C.^{Aff58, Aff59}; Bleda, Marta^Aff5; Blesneac, Iulia^Aff11; Bockenhauer, Detlef^Aff50; Bogaard, Harm^Aff69; Bourne, Christian J.^Aff45; Boyce, Sara^Aff70; Bragin, Eugene^Aff71; Breen, Gerome^{Aff72, Aff73}; Brennan, Paul^{Aff74, Aff75, Aff76}; Brewer, Carole^Aff77; Brown, Matthew^{Aff1, Aff2}; Browning, Andrew C.^Aff78; Browning, Michael J.^Aff79; Buchan, Rachel J.^{Aff80, Aff81}; Buckland, Matthew S.^Aff82; Bueser, Teofila^{Aff83, Aff84}; Diz, Carmen Bugarin^Aff21; Burn, John^Aff76; Burns, Siobhan O.^{Aff85, Aff86}; Burrows, Nigel^Aff46; Campbell, Carolyn^Aff87; Carr-White, Gerald^Aff88; Casey, Ruth^{Aff25, Aff26, Aff27}; Chambers, Jenny^{Aff18, Aff89}; Chambers, John^{Aff90, Aff91, Aff92, Aff93, Aff94}; Chan, Melanie M. Y.^Aff19; Cheah, Calvin^Aff71; Cheng, Floria^Aff89; Chitre, Manali^Aff64; Christian, Martin T.^Aff95; Church, Colin^Aff96; Clayton-Smith, Jill^{Aff58, Aff59}; Cleary, Maureen^Aff50; Brod, Naomi Clements^{Aff1, Aff2}; Coghlan, Gerry^Aff82; Colby, Elizabeth^Aff36; Cole, Trevor R. P.^Aff97; Collins, Janine^{Aff1, Aff98}; Collins, Peter W.^Aff99; Colombo, Camilla^Aff45; Compton, Cecilia J.^Aff83; Condliffe, Robin^Aff100; Cook, Stuart^{Aff80, Aff101, Aff102, Aff103}; Cook, H. Terence^Aff104; Cooper, Nichola^Aff43; Corris, Paul A.^{Aff105, Aff106}; Furnell, Abigail^{Aff1, Aff2}; Cunningham, Fiona^Aff29; Curry, Nicola S.^Aff107; Cutler, Antony J.^Aff108; Daniels, Matthew J.^{Aff32, Aff35, Aff110}; Dattani, Mehul^{Aff67, Aff111}; Daugherty, Louise C.^{Aff1, Aff2, Aff14}; Davis, John^{Aff1, Aff2}; De Soyza, Anthony^{Aff75, Aff106, Aff112}; Dent, Timothy^Aff35; Deshpande, Charu^Aff83; Dewhurst, Eleanor F.^{Aff1, Aff2}; Douzgou, Sofia^{Aff58, Aff59}; Drazyk, Anna M.^Aff28; Drewe, Elizabeth^Aff113; Duarte, Daniel^{Aff1, Aff2}; Dutt, Tina^Aff114; Edgar, J. David M.^{Aff115, Aff116}; Edwards, Karen^{Aff1, Aff2}; Egner, William^Aff117; Ekani, Melanie N.^Aff88; Elliott, Perry^{Aff118, Aff119}; Erber, Wendy N.^Aff120; Erwood, Marie^{Aff1, Aff2}; Estiu, Maria C.^Aff121; Evans, Dafydd Gareth^Aff122; Evans, Gillian^Aff123; Everington, Tamara^{Aff124, Aff125}; Eyries, Mélanie^{Aff126, Aff128}; Fassihi, Hiva^Aff127; Favier, Remi^Aff129; Findhammer, Jack^Aff130; Fletcher, Debra^{Aff1, Aff2}; Flinter, Frances A.^Aff83; Floto, R. Andres^{Aff5, Aff46, Aff66}; Fowler, Tom^{Aff14, Aff15}; Fox, James^{Aff1, Aff2}; Frary, Amy J.^{Aff1, Aff2}; French, Courtney E.^Aff64; Gall, Henning^Aff131; Ganesan, Vijeya^Aff50; Gattens, Michael^Aff46; Geoghegan, Claire^Aff45; Gerighty, Terence S. A.^Aff45; Gharavi, Ali G.^Aff132; Ghio, Stefano^Aff133; Ghofrani, Hossein-Ardeschir^{Aff43, Aff131}; Gibbs, J. Simon R.^Aff80; Gibson, Kate^Aff87; Gilmour, Kimberly C.^{Aff39, Aff50}; Girerd, Barbara^{Aff134, Aff135, Aff136}; Gleadall, Nicholas S.^{Aff1, Aff2}; Goddard, Sarah^Aff137; Goldstein, David B.^Aff138; Gomez, Keith^{Aff60, Aff61}; Gordins, Pavels^Aff139; Gosal, David^Aff53; Graham, Jodie^Aff140; Grassi, Luigi^{Aff1, Aff2}; Greene, Daniel^Aff1; Greenhalgh, Lynn^Aff141; Greinacher, Andreas^Aff142; Gresele, Paolo^Aff143; Griffiths, Philip^{Aff144, Aff145}; Grigoriadou, Sofia^Aff146; Grocock, Russell J.^Aff45; Grozeva, Detelina^Aff25; Gurnell, Mark^{Aff5, Aff46}; Hackett, Scott^Aff147; Hadinnapola, Charaka^Aff5; Hague, William M.^Aff148; Hague, Rosie^Aff149; Hall, Matthew^Aff113; Hanson, Helen L.^Aff150; Haque, Eshika^Aff83; Harkness, Kirsty^Aff151; Harper, Andrew R.^{Aff32, Aff40}; Harris, Claire L.^{Aff106, Aff109}; Hart, Daniel^Aff98; Hassan, Ahamad^Aff152; Hayman, Grant^Aff153; Henderson, Alex^Aff76; Herwadkar, Archana^Aff53; Hoffman, Jonathan^Aff97; Holden, Simon^Aff154; Horvath, Rita^{Aff144, Aff155}; Houlden, Henry^Aff156; Houweling, Arjan C.^Aff223; Howard, Luke S.^{Aff80, Aff157}; Hu, Fengyuan^{Aff1, Aff2}; Hudson, Gavin^Aff145; Hughes, Joseph^Aff45; Huissoon, Aarnoud P.^Aff147; Humbert, Marc^{Aff134, Aff135, Aff136}; Hunter, Sarah^{Aff2, Aff45}; Hurles, Matthew^Aff48; Irving, Melita^Aff83; Izatt, Louise^Aff83; Johnson, Sally A.^{Aff106, Aff109, Aff158}; Jolles, Stephen^Aff159; Jolley, Jennifer^{Aff1, Aff2}; Josifova, Dragana^Aff83; Jurkute, Neringa^{Aff41, Aff61}; Karten, Tim^Aff130; Karten, Johannes^Aff130; Kasanicki, Mary A.^Aff46; Kazkaz, Hanadi^Aff160; Kazmi, Rashid^Aff70; Kelleher, Peter^{Aff161, Aff162}; Kelly, Anne M.^Aff46; Kelsall, Wilf^Aff46; Kempster, Carly^{Aff1, Aff2}; Kiely, David G.^Aff100; Klima, Robert^Aff13; Koelling, Nils^Aff163; Kostadima, Myrto^Aff1; Kovacs, Gabor^{Aff164, Aff165}; Kreuzhuber, Roman^{Aff1, Aff2}; Kuijpers, Taco W.^{Aff166, Aff167}; Kumar, Ajith^Aff52; Kumararatne, Dinakantha^Aff168; Kurian, Manju A.^{Aff169, Aff170}; Lalloo, Fiona^Aff59; Lambert, Michele^{Aff171, Aff172}; Lawrie, Allan^Aff173; Layton, D. Mark^{Aff23, Aff24}; Lench, Nick^Aff71; Lentaigne, Claire^{Aff23, Aff24}; Lester, Tracy^Aff87; Linger, Rachel^{Aff2, Aff38}; Longhurst, Hilary^Aff174; Lorenzo, Lorena E.^Aff146; Louka, Eleni^{Aff12, Aff33}; Lyons, Paul A.^{Aff5, Aff8}; Machado, Rajiv D.^{Aff175, Aff176}; MacKenzie Ross, Robert V.^Aff177; Madan, Bella^Aff178; Maimaris, Jesmeen^Aff39; Malka, Samantha^{Aff41, Aff42}; Mangles, Sarah^Aff125; Marchbank, Kevin J.^{Aff106, Aff179}; Marks, Stephen^Aff50; Marschall, Hanns-Ulrich^Aff180; Marshall, Andrew^{Aff181, Aff182, Aff183}; Martin, Jennifer^{Aff2, Aff5, Aff38}; Mathias, Mary^Aff184; Matthews, Emma^{Aff185, Aff186}; Maxwell, Heather^Aff149; McAlinden, Paul^Aff106; McCarthy, Mark I.^{Aff12, Aff40, Aff187}; McKinney, Harriet^{Aff1, Aff2}; McMahon, Aoife^Aff29; Meacham, Stuart^{Aff1, Aff2}; Mead, Adam J.^Aff33; Castello, Ignacio Medina^Aff13; Mehta, Sarju G.^Aff154; Michaelides, Michel^{Aff41, Aff42}; Millar, Carolyn^{Aff23, Aff24}; Mohammed, Shehla N.^Aff83; Moledina, Shahin^Aff50; Montani, David^{Aff134, Aff135, Aff136}; Moore, Anthony T.^{Aff41, Aff42, Aff188}; Mozere, Monika^Aff19; Muir, Keith W.^Aff189; Nemeth, Andrea H.^{Aff11, Aff190}; Newman, William G.^{Aff58, Aff59}; Newnham, Michael^{Aff5, Aff66}; Noorani, Sadia^Aff191; Nurden, Paquita^Aff192; O’Sullivan, Jennifer^Aff178; Obaji, Samya^Aff193; Odhams, Chris^Aff14; Okoli, Steven^{Aff12, Aff33}; Olschewski, Andrea^Aff164; Olschewski, Horst^{Aff164, Aff165}; Ong, Kai Ren^Aff97; Oram, S. Helen^Aff194; Ouwehand, Willem H.^{Aff1, Aff2, Aff4, Aff6, Aff48}; Palles, Claire^Aff195; Papadia, Sofia^{Aff2, Aff38}; Park, Soo-Mi^{Aff26, Aff27, Aff49}; Parry, David^Aff10; Patel, Smita^Aff196; Paterson, Joan^{Aff25, Aff26, Aff27}; Peacock, Andrew^Aff96; Pearce, Simon H.^{Aff75, Aff140}; Peden, John^Aff45; Peerlinck, Kathelijne^Aff7; Pepke-Zaba, Joanna^Aff66; Petersen, Romina^{Aff1, Aff2}; Pilkington, Clarissa^Aff50; Poole, Kenneth E. S.^{Aff5, Aff46}; Prathalingam, Radhika^Aff71; Psaila, Bethan^{Aff12, Aff33}; Pyle, Angela^Aff145; Quinton, Richard^{Aff75, Aff145}; Rahman, Shamima^{Aff50, Aff67}; Rao, Anupama^Aff50; Raymond, F. Lucy^{Aff2, Aff25}; Rayner-Matthews, Paula J.^{Aff1, Aff2}; Rees, Christine^Aff45; Renton, Tara^Aff198; Rhodes, Christopher J.^Aff43; Rice, Andrew S. C.^{Aff199, Aff200}; Richter, Alex^Aff56; Robert, Leema^Aff83; Rogers, Anthony^Aff71; Rose, Sarah J.^Aff83; Ross-Russell, Robert^Aff46; Roughley, Catherine^Aff123; Roy, Noemi B. A.^{Aff12, Aff33, Aff35, Aff201}; Ruddy, Deborah M.^Aff83; Sadeghi-Alavijeh, Omid^Aff19; Samani, Nilesh^Aff202; Samarghitean, Crina^{Aff1, Aff2}; Sargur, Ravishankar B.^Aff117; Sarkany, Robert N.^Aff127; Satchell, Simon^{Aff36, Aff203}; Savic, Sinisa^{Aff204, Aff205, Aff206}; Sayer, John A.^{Aff75, Aff145}; Sayer, Genevieve^Aff83; Scelsi, Laura^Aff133; Schaefer, Andrew M.^{Aff75, Aff144}; Schulman, Sol^Aff207; Scott, Richard^{Aff14, Aff50}; Scully, Marie^Aff160; Searle, Claire^Aff208; Seeger, Werner^Aff131; Sen, Arjune^{Aff12, Aff209, Aff210}; Sewell, W. A. Carrock^Aff211; Seyres, Denis^{Aff1, Aff2}; Shah, Neil^{Aff39, Aff50}; Shapiro, Susan E.^Aff107; Shaw, Adam C.^Aff83; Short, Patrick J.^Aff48; Sibson, Keith^Aff184; Side, Lucy^Aff212; Simeoni, Ilenia^{Aff1, Aff2}; Simpson, Michael A.^Aff213; Sims, Matthew C.^{Aff1, Aff214}; Sivapalaratnam, Suthesh^{Aff4, Aff98, Aff215, Aff216}; Smedley, Damian^{Aff14, Aff15}; Smith, Katherine R.^Aff14; Snape, Katie^Aff150; Soranzo, Nicole^{Aff1, Aff48}; Soubrier, Florent^Aff126; Southgate, Laura^{Aff176, Aff217}; Spasic-Boskovic, Olivera^Aff49; Staines, Simon^{Aff1, Aff2}; Staples, Emily^Aff5; Steward, Charles^Aff71; Stuckey, Alex^Aff14; Suntharalingam, Jay^Aff177; Swietlik, Emilia M.^Aff5; Syrris, Petros^Aff118; Tait, R. Campbell^Aff218; Talks, Kate^Aff68; Tate, Katie^Aff71; Taylor, John M.^Aff87; Taylor, Jenny C.^{Aff12, Aff40}; Thaventhiran, James E.^{Aff8, Aff219}; Thomas, Ellen^{Aff14, Aff15, Aff88}; Thomas, David^Aff5; Thomas, Moira J.^{Aff220, Aff221}; Thomas, Patrick^{Aff1, Aff2}; Thomson, Kate^{Aff32, Aff35}; Threadgold, Glen^Aff29; Tilly, Tobias^{Aff1, Aff2}; Tischkowitz, Marc^{Aff25, Aff26, Aff49}; Titterton, Catherine^{Aff1, Aff2}; Todd, John A.^Aff108; Toh, Cheng-Hock^Aff114; Tolhuis, Bas^Aff130; Tomlinson, Ian P.^Aff195; Toshner, Mark^{Aff5, Aff66}; Traylor, Matthew^Aff28; Treacy, Carmen^{Aff5, Aff66}; Treadaway, Paul^{Aff1, Aff2}; Trembath, Richard^Aff21; Turek, Wojciech^Aff13; Turro, Ernest^{Aff1, Aff2, Aff3}; Twiss, Philip^Aff49; Vale, Tom^Aff11; Geet, Chris Van^Aff7; Zuydam, Natalie van^{Aff40, Aff197}; Vandekuilen, Maarten^Aff130; Vandersteen, Anthony M.^Aff222; Vazquez-Lopez, Marta^Aff89; von Ziegenweidt, Julie^{Aff1, Aff2}; Noordegraaf, Anton Vonk^Aff69; Wagner, Annette^Aff46; Waisfisz, Quinten^Aff223; Walker, Suellen M.^{Aff39, Aff50}; Walter, Klaudia^Aff48; Ware, James S.^{Aff80, Aff81, Aff101}; Watt, Christopher^{Aff1, Aff2}; Wedderburn, Lucy^{Aff39, Aff224, Aff225}; Wei, Wei^{Aff16, Aff17}; Welch, Steven B.^Aff226; Wessels, Julie^Aff137; Westbury, Sarah K.^{Aff30, Aff31}; Westwood, John-Paul^Aff160; Wharton, John^Aff43; Whitehorn, Deborah^{Aff1, Aff2}; Wilkie, Andrew O. M.^Aff163; Wilson, Brian T.^{Aff52, Aff75, Aff145}; Wong, Edwin K. S.^{Aff75, Aff106}; Wood, Nicholas^{Aff156, Aff227}; Wood, Yvette^{Aff1, Aff2}; Woods, Christopher Geoffrey^{Aff25, Aff46}; Woodward, Emma R.^Aff59; Wort, Stephen J.^{Aff81, Aff228}; Worth, Austen^Aff50; Wright, Michael^Aff76; Yates, Katherine^{Aff1, Aff2, Aff5}; Yong, Patrick F. K.^Aff229; Young, Timothy^{Aff1, Aff2}; Yu, Ping^{Aff1, Aff2}; Yu-Wai-Man, Patrick^{Aff16, Aff17, Aff230}; Zlamalova, Eliska^Aff1
Source:	Nature: International weekly journal of science. 583(7814):96-102
Database:	Springer Nature Journals