ArticleNature genetics2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 299 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
299 citing papers in PubMed, 2 syntheses or guidelines pooled it, 619 citations in OpenAlex.
- Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.International journal of neonatal screening · 2025Guideline
- A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.Frontiers in endocrinology · 2025Pooled it
- G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.Clinical and translational science · 2021Trial
- Article
- Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort.International journal of molecular sciences · 2026Article
- ETI corrector therapy suppresses mitochondrial respiration independently of CFTR mutational status.Biochemical and biophysical research communications · 2026Article
- DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.Genetic epidemiology · 2026Article
- Review
- Profiling the CFTR Variant Selectivity and Off-Target Interactions of VX-121.bioRxiv : the preprint server for biology · 2026Article
- CFTR mediates ClNature communications · 2026Article
- CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.Respiratory research · 2026Article
- Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current.Biochemistry and biophysics reports · 2026Article
- Gut Microbiota and Postbiotic Metabolites: Biotic Intervention for Enhancing Vaccine Responses and Personalized Medicine for Disease Prevention.Probiotics and antimicrobial proteins · 2026Review
- Single cell and spatial characterization of the human pancreas reveals drivers of beta cell dysfunction in cystic fibrosis.bioRxiv : the preprint server for biology · 2025Article
- General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.eLife · 2025Article
- Improvement of Cystic Fibrosis-Associated Liver Disease in Adults on Long-Term Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.Life (Basel, Switzerland) · 2025Article
- A novel drug series optimized to address cystic fibrosis and other CFTR deficiency diseases of human airways.npj drug discovery · 2025Article
- A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?Pediatric pulmonology · 2025Article
- Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.Orphanet journal of rare diseases · 2025Article
- Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring twoEClinicalMedicine · 2025Article
239 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 13 institutions in 6 countries.
Funding
Abstract
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 individuals with cystic fibrosis in registries and clinics in North America and Europe. In these individuals, 159 CFTR variants had an allele frequency of ł0.01%. These variants were evaluated for both clinical severity and functional consequence, with 127 (80%) meeting both clinical and functional criteria consistent with disease. Assessment of disease penetrance in 2,188 fathers of individuals with cystic fibrosis enabled assignment of 12 of the remaining 32 variants as neutral, whereas the other 20 variants remained of indeterminate effect. This study illustrates that sourcing data directly from well-phenotyped subjects can address the gap in our ability to interpret clinically relevant genomic variation.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.