Whole-genome sequencing of patients with rare diseases in a national health system
Author:
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, Aitman Timothy J., Alachkar Hana, Allsup David J., Almeida-King Jeff, Ancliff Philip, Antrobus Richard, Armstrong Ruth, Arno Gavin, Ashford Sofie, Astle William J., Attwood Anthony, Aurora Paul, Babbs Christian, Bacchelli Chiara, Bakchoul Tamam, Banka Siddharth, Bariana Tadbir, Barwell Julian, Batista Joana, Baxendale Helen E., Beales Phil L., Bennett David L., Bentley David R., 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., Burren Oliver S., Burrows Nigel, Calleja Paul, Campbell Carolyn, Carr-White Gerald, Carss Keren, Casey Ruth, Caulfield Mark J., Chambers Jenny, Chambers John, Chan Melanie M. Y., Cheah Calvin, Cheng Floria, Chinnery Patrick F., 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., Furnell Abigail, Cunningham Fiona, Curry Nicola S., Cutler Antony J., Daniels Matthew J., Dattani Mehul, Daugherty Louise C., Davis John, De Soyza Anthony, Deevi Sri V. V., Dent Timothy, Deshpande Charu, Dewhurst Eleanor F., Dixon Peter H., Douzgou Sofia, Downes Kate, 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, Frontini Mattia, Gale Daniel P., 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, Gräf Stefan, Graham Jodie, Grassi Luigi, Greene Daniel, 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, Haimel Matthias, Hall Matthew, Hanson Helen L., Haque Eshika, Harkness Kirsty, Harper Andrew R., Harris Claire L., Hart Daniel, Hassan Ahamad, Hayman Grant, Henderson Alex, Herwadkar Archana, Hoffman Jonathan, Holden Simon, Horvath Rita, Houlden Henry, Houweling Arjan C., Howard Luke S., Hu Fengyuan, Hudson Gavin, Hughes Joseph, Huissoon Aarnoud P., Humbert Marc, Humphray Sean, Hunter Sarah, Hurles Matthew, Irving Melita, Izatt Louise, James Roger, 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, Koziell Ania, Kreuzhuber Roman, Kuijpers Taco W., Kumar Ajith, Kumararatne Dinakantha, Kurian Manju A., Laffan Michael A., Lalloo Fiona, Lambert Michele, Allen Hana Lango, Lawrie Allan, Layton D. Mark, Lench Nick, Lentaigne Claire, Lester Tracy, Levine Adam P., Linger Rachel, Longhurst Hilary, Lorenzo Lorena E., Louka Eleni, Lyons Paul A., Machado Rajiv D., MacKenzie Ross Robert V., Madan Bella, Maher Eamonn R., Maimaris Jesmeen, Malka Samantha, Mangles Sarah, Mapeta Rutendo, Marchbank Kevin J., Marks Stephen, Markus Hugh S., 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, Megy Karyn, Mehta Sarju G., Michaelides Michel, Millar Carolyn, Mohammed Shehla N., Moledina Shahin, Montani David, Moore Anthony T., Morales Joannella, Morrell Nicholas W., Mozere Monika, Muir Keith W., Mumford Andrew D., 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, Ormondroyd Elizabeth, Ouwehand Willem H., Palles Claire, Papadia Sofia, Park Soo-Mi, Parry David, Patel Smita, Paterson Joan, Peacock Andrew, Pearce Simon 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, Rankin Stuart, Rao Anupama, Raymond F. Lucy, Rayner-Matthews Paula J., Rees Christine, Rendon Augusto, Renton Tara, Rhodes Christopher J., Rice Andrew S. C., Richardson Sylvia, Richter Alex, Robert Leema, Roberts Irene, Rogers Anthony, Rose Sarah J., Ross-Russell Robert, Roughley Catherine, Roy Noemi B. A., Ruddy Deborah M., Sadeghi-Alavijeh Omid, Saleem Moin A., Samani Nilesh, Samarghitean Crina, Sanchis-Juan Alba, 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, Shamardina Olga, Shapiro Susan E., Shaw Adam C., Short Patrick J., Sibson Keith, Side Lucy, Simeoni Ilenia, Simpson Michael A., Sims Matthew C., Sivapalaratnam Suthesh, Smedley Damian, Smith Katherine R., Smith Kenneth G. C., Snape Katie, Soranzo Nicole, Soubrier Florent, Southgate Laura, Spasic-Boskovic Olivera, Staines Simon, Staples Emily, Stark Hannah, Stephens Jonathan, Steward Charles, Stirrups Kathleen E., Stuckey Alex, Suntharalingam Jay, Swietlik Emilia M., Syrris Petros, Tait R. Campbell, Talks Kate, Tan Rhea Y. Y., Tate Katie, Taylor John M., Taylor Jenny C., Thaventhiran James E., Themistocleous Andreas C., Thomas Ellen, Thomas David, Thomas Moira J., Thomas Patrick, Thomson Kate, Thrasher Adrian J., Threadgold Glen, Thys Chantal, 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, Tuna Salih, Turek Wojciech, Turro Ernest, 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., Watkins Hugh, Watt Christopher, Webster Andrew R., Wedderburn Lucy, Wei Wei, Welch Steven B., Wessels Julie, Westbury Sarah K., Westwood John-Paul, Wharton John, Whitehorn Deborah, Whitworth James, Wilkie Andrew O. M., Wilkins Martin R., Williamson Catherine, Wilson Brian T., Wong Edwin K. S., Wood Nicholas, Wood Yvette, Woods Christopher Geoffrey, Woodward Emma R., Wort Stephen J., Worth Austen, Wright Michael, Yates Katherine, Yong Patrick F. K., Young Timothy, Yu Ping, Yu-Wai-Man Patrick, Zlamalova Eliska, Kingston Nathalie, Walker Neil, Bradley John R., Ashford Sofie, Penkett Christopher J., Freson Kathleen, Stirrups Kathleen E., Raymond F. Lucy, Ouwehand Willem H.ORCID,
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Reference61 articles.
1. Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A. 179, 885–892 (2019). 2. Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature 562, 203–209 (2018). 3. Boycott, K. M. et al. International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum. Genet. 100, 695–705 (2017). 4. Vissers, L. E. L. M. et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet. Med. 19, 1055–1063 (2017). 5. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–423 (2015).
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