Article

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

Genome medicine - 9 Nov 2023

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