Article
Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2016
Lim Regine M, Silver Ari J, Silver Maxwell J, Borroto Carlos, Spurrier Brett, Petrossian Tanya C, Larson Jessica L, Silver Lee M
Abstract excerpt
PURPOSE: Carrier screening for mutations contributing to cystic fibrosis (CF) is typically accomplished with panels composed of variants that are clinically validated primarily in patients of European descent. This approach has created a static genetic and phenotypic profile for CF. An opportunity now exists to reevaluate the disease profile of CFTR at a global population level. METHODS: CFTR allele and genotype...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Mass Screening
- Mutation
- Risk Factors