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

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

Publikováno v: Nature
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::437fe31a28fdf42305d3bfbf9de3f53d
https://doi.org/10.1530/ey.18.14.6

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

Autor: Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK. et341@cam.ac.uk., Astle WJ; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK., Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Gräf S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK., Shamardina O; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Allen HL; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; British Heart Foundation Cambridge Centre of Excellence, University of Cambridge, Cambridge, UK., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Stephens J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Burren OS; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Haimel M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Tuna S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Aitman TJ; MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Bennett DL; The Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK., Calleja P; High Performance Computing Service, University of Cambridge, Cambridge, UK., Carss K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Caulfield MJ; Genomics England Ltd, London, UK.; William Harvey Research Institute, NIHR Biomedical Research Centre at Barts, Queen Mary University of London, London, UK., Chinnery PF; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK., Dixon PH; Women and Children's Health, School of Life Course Sciences, King's College London, London, UK., Gale DP; Department of Renal Medicine, University College London, London, UK.; Rare Renal Disease Registry, UK Renal Registry, Bristol, UK., James R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK., Koziell A; King's College London, London, UK.; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Laffan MA; Department of Haematology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.; Centre for Haematology, Imperial College London, London, UK., Levine AP; Department of Renal Medicine, University College London, London, UK., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK.; Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK., Markus HS; Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Bristol, UK., Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK., Morrell NW; NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Ormondroyd E; NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.; Department of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Rankin S; High Performance Computing Service, University of Cambridge, Cambridge, UK., Rendon A; 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Publikováno v: Nature [Nature] 2020 Jul; Vol. 583 (7814), pp. 96-102. Date of Electronic Publication: 2020 Jun 24.

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