Article
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nature genetics - 1 Oct 2013
Sosnay Patrick R, Siklosi Karen R, Van Goor Fredrick, Kaniecki Kyle, Yu Haihui, Sharma Neeraj, Ramalho Anabela S, Amaral Margarida D, Dorfman Ruslan, Zielenski Julian, Masica David L, Karchin Rachel, Millen Linda, Thomas Philip J, Patrinos George P, Corey Mary, Lewis Michelle H, Rommens Johanna M, Castellani Carlo, Penland Christopher M, Cutting Garry R
Abstract excerpt
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 individuals with cystic fibrosis in...
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