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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.
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Although all next-generation methods use different technologies, they all share a set of standard features....
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Updated: Nov 13, 2025

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
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Next-generation sequencing for inborn errors of immunity.

Kristy Lee1, Roshini S Abraham2

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Human Immunology
|March 15, 2021
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Summary

Next-generation sequencing (NGS) is crucial for diagnosing inborn errors of immunity (IEIs). Understanding NGS technologies and data interpretation is essential for clinicians to improve patient management and develop targeted therapies.

Keywords:
Exome sequencingGenome sequencingInborn errors of immunityNext-generation sequencingPrimary immunodeficiencies

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Area of Science:

  • Immunology
  • Genetics
  • Genomics

Background:

  • Inborn errors of immunity (IEIs) encompass hundreds of gene defects impacting the immune system.
  • Next-generation sequencing (NGS) is a vital diagnostic tool for these constitutional disorders.
  • Clinical specialists often lack formal genetic training, necessitating accessible knowledge on NGS.

Purpose of the Study:

  • To provide an overview of genetic testing for IEIs.
  • To explain the "why, how, and when" of utilizing NGS in clinical practice for IEI diagnosis and management.
  • To bridge the knowledge gap for clinicians regarding NGS technologies and data interpretation.

Main Methods:

  • Review of current NGS technologies and analytical approaches for genomic analysis.
  • Discussion of bioinformatics tools and resources for variant identification and interpretation.
  • Examination of clinical evidence guiding the application of genetic testing in IEI patients.

Main Results:

  • NGS confirms diagnoses, identifies novel genetic defects, expands phenotypes, and clarifies disease mechanisms.
  • Understanding NGS facilitates personalized therapeutic strategies and molecularly targeted treatments.
  • Variability exists in NGS technologies, analytical tools, and bioinformatics approaches.

Conclusions:

  • Genetic testing, particularly NGS, is indispensable for diagnosing and managing IEIs.
  • Clinicians require foundational knowledge of genetics and NGS to effectively utilize genomic data.
  • Molecular insights from NGS can significantly alter patient management and treatment outcomes.