Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients

Sun, Q; Liu, WF; Rosen, JD; Huang, L; Pace, RG; Dang, H; Gallins, PJ; Blue, EE; Ling, H; Corvol, H; Strug, LJ; Bamshad, MJ; Gibson, RL; Pugh, EW; Blackman, SM; Cutting, GR; O'Neal, WK; Zhou, YH; Wright, FA; Knowles, MR; Wen, J; Li, Y

Li, Y (通讯作者)，Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.;Wen, J; Li, Y (通讯作者)，Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Li, Y (通讯作者)，Univ N Carolina, Dept Comp Sci, Chapel Hill, NC 27599 USA.

HUMAN GENETICS AND GENOMICS ADVANCES, 2022; 3 (2):

Abstract

Cystic fibrosis (CF) is a severe genetic disorder that can cause multiple comorbidities affecting the lungs, the pancreas, the luminal digestive syste......

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