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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.

Marco Lucarelli1, Luigi Porcaro2, Alice Biffignandi2

  • 1Department of Cellular Biotechnologies and Hematology, Sapienza University, Rome, Italy; Pasteur Institute Cenci Bolognetti Foundation, Sapienza University, Rome, Italy.

The Journal of Molecular Diagnostics : JMD
|July 25, 2017
PubMed
Summary
This summary is machine-generated.

A new laboratory assay effectively identifies cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. This advanced genetic test improves cystic fibrosis (CF) diagnosis and screening with high detection rates.

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Diagnostics

Background:

  • Cystic Fibrosis (CF) diagnosis relies on identifying mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
  • The complexity of CFTR mutations and genetic variability poses challenges for accurate diagnosis and screening.
  • Existing genetic tests may not cover the full spectrum of CFTR mutations.

Purpose of the Study:

  • To develop and validate a novel laboratory assay for comprehensive CFTR mutation detection.
  • To enhance the diagnostic capabilities for cystic fibrosis in the Italian population.
  • To improve neonatal and carrier screening for CF.

Main Methods:

  • Utilized a next-generation sequencing-based method for mutation analysis.
  • Developed a customized panel of 188 CFTR mutations relevant to the Italian population.
  • Validated the assay using a large cohort including neonatal screening samples, diverse genomic DNA, and CF patient samples.

Main Results:

  • The assay successfully identified and validated 159 out of 188 targeted CFTR mutations.
  • Achieved high detection rates of 95.0% and 95.6% in distinct cohorts of Italian CF patients.
  • Demonstrated excellent analytical and diagnostic performance characteristics.

Conclusions:

  • The developed assay offers a significant advancement for cystic fibrosis genetic testing.
  • It is well-suited for diagnostic purposes, neonatal and carrier screening, and assisted reproduction.
  • This assay provides a valuable tool for CF genetic counseling and personalized therapy.