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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

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Published on: August 24, 2017

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

Ahmad N Abou Tayoun1, Christopher D Tunkey, Trevor J Pugh

  • 1Department of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, and Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH;

Clinical Chemistry
|June 19, 2013
PubMed
Summary
This summary is machine-generated.

This study presents a new cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing assay. The scalable next-generation sequencing method accurately detects CFTR mutations for improved genetic disorder diagnosis.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Diagnostics

Background:

  • Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
  • Current CFTR genotyping assays detect only a subset of known mutations.
  • Scalable sequencing methods are needed to detect more CFTR mutations efficiently.

Purpose of the Study:

  • To develop and validate a proof-of-concept CFTR assay using next-generation sequencing.
  • To assess the scalability, accuracy, and reproducibility of the assay for clinical diagnostics.

Main Methods:

  • Utilized PCR target enrichment and next-generation sequencing on the Ion Torrent PGM platform.
  • Performed a blinded study on 79 patient DNA samples and cell lines.
  • Evaluated assay performance for single-nucleotide variants, insertions/deletions, and copy-number variants.

Main Results:

  • Demonstrated assay scalability with high mean depth of coverage (500×–3500×).
  • Achieved 100% reproducibility and high specificity, detecting most mutation types.
  • Reported a low rate of false positives and variants of unknown significance.

Conclusions:

  • The developed CFTR sequencing assay is a powerful tool for clinical diagnostics.
  • Ion Torrent PGM sequencing offers a rapid and scalable approach for CFTR mutation detection.
  • Further optimization will enhance its utility in clinical laboratories.