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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....

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Updated: Jan 4, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Technical progress in circulating tumor DNA analysis using next generation sequencing.

Yunfei Bai¹, Zexin Wang¹, Zhiyu Liu¹

¹State Key Lab of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, Jiangsu, 210096, China.

Molecular and Cellular Probes

|November 13, 2019

Summary

This summary is machine-generated.

Circulating tumor DNA (ctDNA) analysis offers a non-invasive way to detect cancer mutations. This review focuses on next-generation sequencing methods to improve ctDNA detection sensitivity for clinical applications.

Keywords:

Cancer Circulating tumor DNA Library preparation Liquid biopsy Next generation sequencing Single molecule barcode

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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Published on: June 8, 2019

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Last Updated: Jan 4, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Published on: June 8, 2019

Area of Science:

Molecular Biology
Oncology
Genetics

Background:

Circulating tumor DNA (ctDNA) is fragmented DNA from tumors found in bodily fluids, mainly blood.
ctDNA analysis can complement tissue biopsies for cancer detection and treatment.
It provides genetic and epigenetic information, aiding in diagnosis, prognosis, and monitoring.

Purpose of the Study:

To review current ctDNA mutation detection methods using next-generation sequencing (NGS).
To highlight the advantages and limitations of existing ctDNA detection techniques.
To focus on optimized library preparation methods for enhanced ctDNA sensitivity and specificity.

Main Methods:

Review of next-generation sequencing-based ctDNA mutation detection techniques.
Analysis of optimized library preparation methods for improved ctDNA analysis.
Evaluation of sensitivity and specificity in current ctDNA detection strategies.

Main Results:

Next-generation sequencing enables detection of various ctDNA alterations, including SNVs and CNVs.
ctDNA analysis can identify mutations linked to therapeutic resistance.
Current detection techniques often lack the sensitivity required for routine clinical use.

Conclusions:

Optimized library preparation methods are crucial for improving ctDNA detection sensitivity and specificity.
Advancements in ctDNA detection are vital for its routine application in cancer diagnosis, prognosis, and treatment.
Further research is needed to overcome sensitivity limitations for widespread clinical adoption.