ArticleScientific reports2019
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.Human molecular genetics · 2025Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Hypokalemic Hypochloremic Metabolic Alkalosis in Cystic Fibrosis: A Retrospective Observational Study with Clinical Characterization,International journal of molecular sciences · 2026Observational
- Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.Nature genetics · 2026Article
- Role of theInternational journal of molecular sciences · 2025Article
- Transforming Care Models in Cystic Fibrosis: A Review.Healthcare (Basel, Switzerland) · 2025Review
- Advancing the frontier of rare disease modeling: a critical appraisal of in silico technologies.NPJ digital medicine · 2025Review
- Organoid-on-a-chip (OrgOC): Advancing cystic fibrosis research.Materials today. Bio · 2025Review
- The response of rare CFTR mutations to specific modulator combinations.ERJ open research · 2025Article
- Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.The Ulster medical journal · 2025Article
- Article
- miRNA-target gene network analysis in siblings with cystic fibrosis and phenotypic variability.Turkish journal of medical sciences · 2025Article
- Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.medRxiv : the preprint server for health sciences · 2024Article
- Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.AMB Express · 2024Article
- Article
- Functional Consequences of CFTR Interactions in Cystic Fibrosis.International journal of molecular sciences · 2024Review
- Effect of elexacaftor-tezacaftor-ivacaftor on nasal potential difference and lung function in Phe508del rats.Frontiers in pharmacology · 2024Article
- Understanding and addressing the needs of people with cystic fibrosis in the era of CFTR modulator therapy.The Lancet. Respiratory medicine · 2023Review
- Defining and Promoting Pediatric Pulmonary Health: Developing Biomarkers for Pulmonary Health.Pediatrics · 2023Article
- Epidemiological Profile of Hospitalized Patients with Cystic Fibrosis in Brazil Due to Severe Acute Respiratory Infection during the COVID-19 Pandemic and a Systematic Review of Worldwide COVID-19 in Those with Cystic Fibrosis.Healthcare (Basel, Switzerland) · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants through in 8 silico tools. Two guidelines were followed to deduce the pathogenicity. A total of 169 CF patients had genomic DNA submitted to a Targeted Gene Sequencing and we identified 63 variants (three patients had three variants). The most frequent alleles were: F508del (n = 192), G542* (n = 26), N1303K (n = 11), R1162* and R334W (n = 9). The screened variants were classified as follows: 41 - pathogenic variants [classified as (I) n = 23, (II) n = 6, (III) n = 1, (IV) n = 6, (IV/V) n = 1 and (VI) n = 4]; 14 - variants of uncertain significance; and seven novel variants. To the novel variants we suggested the classification of 6b-16 exon duplication, G646* and 3557delA as Class I. There was concordance among the predictors as likely pathogenic for L935Q, cDNA.5808T>A and I1427I. Also, Y325F presented two discordant results among the predictors. HTS and in silico analysis can identify pathogenic CFTR variants and will open the door to integration of precision medicine into routine clinical practice in the near future.
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