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 Allroggen, Olaf 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
BACKGROUND: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome. METHODS: We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays...
November 9, 2023: Genome Medicine