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Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.

EBioMedicine - 1 Feb 2026

Bar Lilly, Darrah Rebecca J, Vaidyanathan Sriram

Abstract excerpt

BACKGROUND: The presence of cystic fibrosis (CF) in diverse groups is known but its incidence is not established in non-European populations. We predict that the number of births with CF in populations with non-European and European ancestry are comparable, and that sampling the general population may inform improved diagnostic and therapeutic strategies. METHODS: We curated pathogenic CFTR variants from the...

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Alleles
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Databases, Genetic
CFTR gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41633103
DOI: 10.1016/j.ebiom.2026.106145
PMCID: PMC12887769

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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