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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: Apr 11, 2026

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

Clinical next generation sequencing to identify actionable aberrations in a phase I program.

Genevieve M Boland^1,2, Sarina A Piha-Paul³, Vivek Subbiah³

¹Division of Surgical Oncology, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

|May 28, 2015

Summary

Genomic profiling of 500 advanced cancer patients revealed frequent mutations in TP53, KRAS, and PIK3CA. Multiplex testing identified actionable mutations across diverse tumor types, enabling genotype-driven clinical trials.

Keywords:

actionable genes genomic sequencing

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Last Updated: Apr 11, 2026

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 of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Published on: October 10, 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

Area of Science:

Oncology
Genomics
Molecular Biology

Background:

Advanced cancer patients often benefit from molecular profiling to guide treatment.
Understanding mutation frequencies across various cancer types is crucial for targeted therapy development.

Purpose of the Study:

To determine the frequency of recurrent hotspot mutations in 46 cancer-related genes.
To analyze mutation patterns across different tumor histologies in patients with advanced cancer.

Main Methods:

Genomic profiling of archival tumor DNA from 500 consecutive patients.
Testing for 740 hotspot mutations in 46 genes using the Ampli-Seq Cancer Panel.

Main Results:

362 out of 500 patients had at least one mutation; TP53 (36%), KRAS (11%), and PIK3CA (9%) were most common.
Mutation frequencies varied significantly by tumor type, with pancreas (100%) and colorectal (89%) showing high rates.
151 patients (30%) had alterations in potentially actionable genes, including rare mutations in common and rare tumor types.

Conclusions:

Multiplex testing in a CLIA environment effectively characterizes tumor genomics across lineages.
This approach identifies novel opportunities for genotype-driven clinical trials in advanced cancer.