Now showing items 1-2 of 2

  • Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees 

    Jun, G; Manning, A; Almeida, M; Zawistowski, M; Wood, AR; Teslovich, TM; Fuchsberger, C; Feng, S; Cingolani, P; Gaulton, KJ; Dyer, T; Blackwell, TW; Chen, H; Chines, PS; Choi, S; Churchhouse, C; Fontanillas, P; King, R; Lee, S; Lincoln, SE; Trubetskoy, V; DePristo, M; Fingerlin, T; Grossman, R; Grundstad, J; Heath, A; Kim, J; Kim, YJ; Laramie, J; Lee, J; Li, H; Liu, X; Livne, O; Locke, AE; Maller, J; Mazur, A; Morris, AP; Pollin, TI; Ragona, D; Reich, D; Rivas, MA; Scott, LJ; Sim, X; Tearle, RG; Teo, YY; Williams, AL; Zöllner, S; Curran, JE; Peralta, J; Akolkar, B; Bell, GI; Burtt, NP; Cox, NJ; Florez, JC; Hanis, CL; McKeon, C; Mohlke, KL; Seielstad, M; Wilson, JG; Atzmon, G; Below, JE; Dupuis, J; Nicolae, DL; Lehman, D; Park, T; Won, S; Sladek, R; Altshuler, D; McCarthy, MI; Duggirala, R; Boehnke, M; Frayling, TM; Abecasis, GR; Blangero, J (National Academy of Sciences, 2018-01-09)
    A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare ...
  • Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes 

    Wood, AR; Tuke, MA; Nalls, M; Hernandez, D; Gibbs, JR; Lin, H; Xu, CS; Li, Q; Shen, J; Jun, G; Almeida, M; Tanaka, T; Perry, JR; Gaulton, K; Rivas, M; Pearson, R; Curran, JE; Johnson, MP; Göring, HH; Duggirala, R; Blangero, J; Mccarthy, MI; Bandinelli, S; Murray, A; Weedon, MN; Singleton, A; Melzer, D; Ferrucci, L; Frayling, Timothy M. (Oxford University Press (OUP), 2015-03-01)
    Initial results from sequencing studies suggest that there are relatively few low-frequency (<5%) variants associated with large effects on common phenotypes. We performed low-pass whole-genome sequencing in 680 individuals ...