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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25880441
DOI: 10.1038/gim.2015.52

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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