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

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

Autor(en): 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; Banos-Pinero, 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; Nemeth, 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, Noemi; 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.
Tübinger Autor(en):
Rad, Aboulfazl
Vona, Barbara
Erschienen in: Genome Medicine (2023), Bd. 15 (1), Article 94
Verlagsangabe: London : Bmc
Sprache: Englisch
Referenz zum Volltext: http://dx.doi.org/10.1186/s13073-023-01240-0
ISSN: 1756-994X
DDC-Klassifikation: 570 - Biowissenschaften, Biologie
610 - Medizin, Gesundheit
Dokumentart: Wissenschaftlicher Artikel
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