Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients
Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth Pugh, Scott M. Blackman, , Yun Li
The paper improves genotype imputation for CF patients using the TOPMed reference panel and a CF-specific imputation panel, enhancing marker coverage and PRS accuracy.
Human Genetics and Genomics Advances · Jan 11, 2022Peer-reviewedGenetics