Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Clinical chemistry - 1 Oct 2013

Abou Tayoun Ahmad N, Tunkey Christopher D, Pugh Trevor J, Ross Tristen, Shah Minita, Lee Clarence C, Harkins Timothy T, Wells Wendy A, Tafe Laura J, Amos Christopher I, Tsongalis Gregory J

Abstract excerpt

BACKGROUND: Cystic fibrosis is a life-threatening genetic disorder that has been associated with mutations in the CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] gene. Hundreds of CFTR mutations have been detected to date. Current CFTR genotyping assays target a subset of these mutations, particularly a mutation panel recommended by the American College of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CFTR gene

Share to Gene Dosage

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sensitivity and Specificity

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 23775370
DOI: 10.1373/clinchem.2013.206466
PMCID: PMC4570467

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A comprehensive assay for CFTR mutational analysis using next-generation sequencing.PMID 23775370Read ↗

Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing.Semantic proximity Read ↗

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of<i>CFTR</i>Semantic proximity Read ↗

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.Semantic proximity Read ↗

Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.Semantic proximity Read ↗

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTRSemantic proximity Read ↗

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisSemantic proximity Read ↗

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.Semantic proximity Read ↗

A new insight into CFTR allele frequency in Brazil through next generation sequencing.Semantic proximity Read ↗

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.Semantic proximity Read ↗

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn ScreeningSemantic proximity Read ↗

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.Semantic proximity Read ↗

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.