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

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

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Biochemistry, Genetics and Molecular Biology