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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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Related Experiment Video

Updated: Nov 5, 2025

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

Contamination Assessment for Cancer Next-Generation Sequencing.

Yvonne Y Li^1,2, Ryan J Schmidt^1,3, Danielle K Manning¹

¹From the Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts (Li, Schmidt, Manning, Jia, Dong).

Archives of Pathology & Laboratory Medicine

|May 20, 2021

Summary

A new method accurately detects allogeneic contamination in cancer next-generation sequencing (NGS) specimens. This quality control approach identified contamination in 3.5% of over 7,500 clinical samples, improving diagnostic accuracy.

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Last Updated: Nov 5, 2025

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

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

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Area of Science:

Molecular diagnostics
Genomic medicine
Cancer genomics

Background:

Allogeneic contamination in clinical cancer next-generation sequencing (NGS) specimens can impact reporting.
Consensus guidelines recommend contamination identification for quality control, but clinical implementation is not widely reported.

Purpose of the Study:

To develop and implement a method for assessing allogeneic contamination in clinical cancer NGS specimens.

Main Methods:

A novel method was developed to detect contamination by evaluating single-nucleotide polymorphic sites in tumor-only specimens.
The method was validated using in silico and in vitro mixtures and tested on normal specimens for reproducibility.

Main Results:

The algorithm accurately identified systemic contamination, including that from reagent impurity.
Prospective application to 7,571 clinical cancer specimens revealed that 262 specimens (3.5%) had >5% contamination.
Validation confirmed the method's accuracy and reproducibility.

Conclusions:

Allogeneic contamination can be detected using intrinsic cancer NGS data without requiring paired normal sequencing.
Implementing this method serves as a valuable quality control measure for clinical molecular diagnostic laboratories performing NGS.