Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

• Published in: Nature genetics Vol. 45; no. 10; pp. 1160 - 1167
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.10.2013; Nature Publishing Group
• Subjects: 631/208; 692/699; Agriculture; Algorithms; Animal Genetics and Genomics; Biomedicine; Cancer Research; Colleges & universities; Cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Diagnosis; Experiments; Female; Gene Frequency; Gene Function; Genetic aspects; Genetic screening; Genetic translation; Genotype; Genotype & phenotype; Heterogeneity; Human Genetics; Humans; Laboratories; Liability; Male; Methods; Phenotype; United States

Garry Cutting and colleagues report a comprehensive functional and clinical analysis of CFTR variants reported in cystic fibrosis. They determine that 128 of 160 CFTR variants with an allele frequency of >0.01% are causal for disease. Allelic heterogeneity in disease-causing genes presents a subs...