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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: Dec 28, 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

Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in

Silvia Bessi¹, Francesco Pepe², Marco Ottaviantonio³

¹Azienda USL Toscana Centro, Complex Unit of Pathological Anatomy Empoli-Prato, S. Stefano Hospital, Prato, Italy silvia2.bessi@uslcentro.toscana.it.

Journal of Clinical Pathology

|February 16, 2020

Summary

This study compared two next-generation sequencing platforms for analyzing solid tumor samples. Both platforms showed high concordance, indicating GeneReader

Keywords:

molecular biology oncology tumour markers

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Last Updated: Dec 28, 2025

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

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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

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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 Oncology
Genomic Analysis
Biotechnology

Background:

Formalin-fixed paraffin-embedded (FFPE) tissues are crucial for molecular diagnostics.
Next-generation sequencing (NGS) platforms are vital for analyzing FFPE samples.
Evaluating platform concordance is essential for reliable clinical applications.

Purpose of the Study:

To compare the performance of GeneReader and Ion Torrent NGS platforms.
To assess concordance in variant detection and allele fraction analysis using FFPE solid tumor samples.
To determine the suitability of the GeneReader platform for routine molecular predictive practice.

Main Methods:

Analysis of 44 FFPE solid tumor samples.
Utilized two distinct NGS platforms: GeneReader and Ion Torrent.
Statistical analysis included Cohen's kappa and Pearson's correlation.

Main Results:

100% concordance observed between the GeneReader and Ion Torrent platforms.
High agreement in variant detection (Cohen's kappa=0.84).
Very high concordance in variant allele fraction (Pearson's r=0.94).

Conclusions:

The GeneReader platform demonstrates high performance on FFPE samples.
GeneReader is suitable for routine molecular predictive diagnostics.
Both platforms provide reliable results for solid tumor analysis.