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

<p><strong>Background</strong></p> 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 25–3...

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Main Authors:	Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Lines, KE, Lord, SR, Lu, X, Marsden, B, Ormondroyd, E, Stevenson, M, Twigg, SRF, Uhlig, HH, Watkins, H, Schuh, AH, Wilkie, AOM, Taylor, JC
Format:	Journal article
Language:	English
Published:	BioMed Central 2023

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

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