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Next-generation Sequencing

Next-generation Sequencing

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....

PCR

PCR

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Related Experiment Video

Updated: Oct 4, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report.

Jack K Tung¹, Kelly A Devereaux², Archana Lal Erdmann³

¹Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.

Journal of Clinical Pathology

|February 11, 2022

Summary

This summary is machine-generated.

Amplicon-based next-generation sequencing (NGS) assays are valuable for cancer mutation detection. Recognizing potential pitfalls in these assays is crucial for accurate clinical variant interpretation and reporting.

Keywords:

genes genetics medical oncology molecular neoplasm pathology

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Last Updated: Oct 4, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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Published on: April 11, 2016

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Published on: September 20, 2016

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Area of Science:

Oncology
Genetics
Molecular Diagnostics

Background:

Amplicon-based next-generation sequencing (NGS) is a sensitive, rapid, and cost-effective method for detecting clinically actionable mutations.
Accurate detection of these mutations is vital for cancer diagnosis, prognosis, and treatment selection.
However, inherent limitations in amplicon-based NGS assays can impact variant interpretation.

Purpose of the Study:

To highlight potential pitfalls associated with amplicon-based NGS assays.
To provide insights based on institutional experience.
To offer strategies for minimizing risks in clinical variant reporting.

Main Methods:

Review of institutional experience with amplicon-based NGS assays.
Identification and illustration of specific assay limitations.
Development of recommendations for risk mitigation.

Main Results:

Three distinct potential pitfalls in amplicon-based NGS assays were identified.
These pitfalls can affect the accuracy of variant detection and interpretation.
Strategies to minimize these risks were proposed.

Conclusions:

Awareness of amplicon-based NGS assay limitations is essential for correct clinical variant interpretation.
Proactive measures can mitigate risks associated with these assays.
Implementing these strategies enhances the reliability of NGS in cancer patient management.