Now showing items 1-3 of 3

    • CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. 

      Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; Mahamdallie, S; Cloke, V; Seal, S; Strydom, A; Lunter, G; Rahman, N (2015-01)
      Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision ...
    • Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 

      Ruark, E; Seal, S; McDonald, H; Zhang, F; Elliot, A; Lau, K; Perdeaux, E; Rapley, E; Eeles, R; Peto, J; Kote-Jarai, Z; Muir, K; Nsengimana, J; Shipley, J; Bishop, DT; Stratton, MR; Easton, DF; Huddart, RA; Rahman, N; Turnbull, C (2013-06)
      Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) ...
    • The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. 

      Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018)
      Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ...