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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

by Pagnamenta, Alistair T, Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M, Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J, Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R, Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V, Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L, Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R, Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E, Guerrini, Renzo, Harris, Adrian L, Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J L, Kreins, Alexandra Y, Kvikstad, Erika M, Langman, Craig B, Lester, Tracy, Lines, Kate E, Lord, Simon R, Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J, Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H, Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y, Pentony, Melissa M, Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G, Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D, Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V, Twigg, Stephen R F, Uhlig, Holm H, van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H, Kini, Usha, Wilkie, Andrew O M, Popitsch, Niko, Taylor, Jenny C
Published in Genome medicine (09.11.2023)

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