Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences
Justin E. Ideozu, Mengzhen Liu, Bridget M. Riley-Gillis, Sri R. Paladugu, Fedik Rahimov, Preethi Krishnan, Rakesh L. Tripathi, Patrick K. Dorr, Hara Levy, Ashvani K. Singh, Jeffrey F. Waring, Aparna Vasanthakumar
The paper characterizes CFTR variant diversity across six ancestries using UK Biobank whole exome sequences, identifying ancestry-specific variants and associations with CF-related phenotypes.
medRxiv · Mar 10, 2023 · PreprintGenetic & Genomic Medicine