Now showing items 1-4 of 4

    • FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment. 

      Wilkins, A; Chauhan, R; Rust, A; Pearson, A; Daley, F; Manodoro, F; Fenwick, K; Bliss, J; Yarnold, J; Somaiah, N (2018-08)
      Background Bio-banked formalin-fixed paraffin-embedded (FFPE) tissues provide an excellent opportunity for translational genomic research. Historically matched blood has not always been collected as a source of germline ...
    • Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. 

      Mackay, A; Burford, A; Carvalho, D; Izquierdo, E; Fazal-Salom, J; Taylor, KR; Bjerke, L; Clarke, M; Vinci, M; Nandhabalan, M; Temelso, S; Popov, S; Molinari, V; Raman, P; Waanders, AJ; Han, HJ; Gupta, S; Marshall, L; Zacharoulis, S; Vaidya, S; Mandeville, HC; Bridges, LR; Martin, AJ; Al-Sarraj, S; Chandler, C; Ng, H-K; Li, X; Mu, K; Trabelsi, S; Brahim, DH-B; Kisljakov, AN; Konovalov, DM; Moore, AS; Carcaboso, AM; Sunol, M; de Torres, C; Cruz, O; Mora, J; Shats, LI; Stavale, JN; Bidinotto, LT; Reis, RM; Entz-Werle, N; Farrell, M; Cryan, J; Crimmins, D; Caird, J; Pears, J; Monje, M; Debily, M-A; Castel, D; Grill, J; Hawkins, C; Nikbakht, H; Jabado, N; Baker, SJ; Pfister, SM; Jones, DTW; Fouladi, M; von Bueren, AO; Baudis, M; Resnick, A; Jones, C (2017-10)
      We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of >1,000 cases. We identified co-segregating ...
    • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. 

      Ioannidis, NM; Rothstein, JH; Pejaver, V; Middha, S; McDonnell, SK; Baheti, S; Musolf, A; Li, Q; Holzinger, E; Karyadi, D; Cannon-Albright, LA; Teerlink, CC; Stanford, JL; Isaacs, WB; Xu, J; Cooney, KA; Lange, EM; Schleutker, J; Carpten, JD; Powell, IJ; Cussenot, O; Cancel-Tassin, G; Giles, GG; MacInnis, RJ; Maier, C; Hsieh, C-L; Wiklund, F; Catalona, WJ; Foulkes, WD; Mandal, D; Eeles, RA; Kote-Jarai, Z; Bustamante, CD; Schaid, DJ; Hastie, T; Ostrander, EA; Bailey-Wilson, JE; Radivojac, P; Thibodeau, SN; Whittemore, AS; Sieh, W (2016-10)
      The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the ...
    • Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours. 

      Litchfield, K; Summersgill, B; Yost, S; Sultana, R; Labreche, K; Dudakia, D; Renwick, A; Seal, S; Al-Saadi, R; Broderick, P; Turner, NC; Houlston, RS; Huddart, R; Shipley, J; Turnbull, C (2015-01-22)
      Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ...