Accounting for population structure in genetic studies of cystic fibrosis

Accounting for population structure in genetic studies of cystic fibrosis

Summary: CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this cline is overrepresented in a large cohort (N >...

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Main Authors: Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue
Format: Article
Language:English
Published: Elsevier 2022-07-01
Series:HGG Advances
Subjects:
CFTR F508del
population structure
genome-wide association study
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247722000331

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http://www.sciencedirect.com/science/article/pii/S2666247722000331

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