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The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom by Schwarze, K, Buchanan, J, Fermont, JM, Dreau, H, Tilley, MW, Taylor, JM, Antoniou, P, Knight, SJL, Camps, C, Pentony, MM, Kvikstad, EM, Harris, S, Popitsch, N, Pagnamenta, AT, Schuh, A, Taylor, JC, Wordsworth, S
Published 2019Journal article -
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Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing by Schuh, A, Dreau, H, Knight, SJL, Ridout, K, Mizani, T, Vavoulis, D, Colling, R, Antoniou, P, Kvikstad, EM, Pentony, MM, Hamblin, A, Protheroe, A, Parton, M, Shah, KA, Zsolt, O, Athanasou, N, Hassan, B, Flanagan, AM, Ahmed, A, Winter, S, Harris, A, Tomlinson, I, Popitsch, N, Church, DN, Taylor, JC
Published 2018Journal article -
3
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by 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, 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
Published 2023Journal article