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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
Although all next-generation methods use different technologies, they all share a set of standard features....
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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Vera Gallo1, Laura Dotta2, Giuliana Giardino1

  • 1Department of Translational Medical Sciences, Federico II University , Naples , Italy.

Frontiers in Immunology
|November 23, 2016
PubMed
Summary

Next-generation sequencing (NGS) aids in diagnosing primary immunodeficiencies (PIDs). Whole exome sequencing (WES) is valuable for timely PID diagnosis and genotype-phenotype correlation, though many cases remain undiagnosed.

Keywords:
genetic diagnosisgenotype–phenotype correlationprimary immunodeficienciestargeted next-generation sequencingwhole exome sequencing

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Area of Science:

  • Immunology
  • Genetics
  • Medical Diagnostics

Background:

  • Over 250 primary immunodeficiencies (PIDs) are known, with new genetic defects continually identified.
  • Next-generation sequencing (NGS) technologies accelerate the analysis of numerous genes or the whole exome.

Purpose of the Study:

  • To assess the diagnostic utility of targeted NGS and whole exome sequencing (WES) in patients with complex or atypical PIDs.
  • To evaluate the role of these advanced genetic techniques in cases challenging for current diagnostic methods.

Main Methods:

  • Retrospective analysis of genetic variants from targeted NGS or WES in 45 patients with complex PIDs of unknown origin.
  • Classification of identified variants into categories: associated with defined PIDs, atypical PID features, potentially relevant to immunological features, or non-diagnostic.

Main Results:

  • Conclusive genetic diagnoses were achieved in 7 out of 45 patients (approximately 16%).
  • Four patients had typical PIDs, while three presented with mutations linked to unexpected clinical features, expanding known PID phenotypes.
  • 31 variants in 10 patients were identified but were not individually causative of the disorder.

Conclusions:

  • NGS is a cost-effective, rapid first-line approach for evaluating complex PIDs.
  • WES is a valuable tool for timely PID diagnosis and establishing genotype-phenotype correlations.
  • A significant portion of patients remain undiagnosed, suggesting potential utility of non-diagnostic variants in future large-scale studies.