Study design used by Emond et al. to identify DCTN4 as a genetic modifier for Cystic Fibrosis. In the first stage, the authors used and extreme design, followed by confirmation in a large second cohort of CF patients.
Ingo Helbig
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany