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Related Experiment Video

Updated: Jul 14, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

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

Published on: October 18, 2013

Multigene amplification and massively parallel sequencing for cancer mutation discovery.

Fredrik Dahl1, Johan Stenberg, Simon Fredriksson

  • 1Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA. fdahl@stanford.edu

Proceedings of the National Academy of Sciences of the United States of America
|May 23, 2007
PubMed
Summary

This study introduces a novel method for massively parallel gene resequencing, enabling efficient identification of mutations and polymorphisms in multiple human genes. The technique combines targeted DNA amplification with high-throughput sequencing for comprehensive genetic analysis.

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

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Last Updated: Jul 14, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

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

Published on: October 18, 2013

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

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

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

Published on: September 20, 2016

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Accurate and efficient resequencing of multiple genes is crucial for understanding genetic variations.
  • Existing methods may face limitations in throughput and multiplexing capabilities for large-scale genetic analysis.

Purpose of the Study:

  • To develop and validate a novel procedure for massively parallel resequencing of multiple human genes.
  • To demonstrate the capability of identifying mutations and polymorphisms in cancer-related genes.

Main Methods:

  • Development of a procedure combining highly multiplexed, target-specific amplification using oligonucleotide selectors.
  • Utilizing high-throughput parallel sequencing-by-synthesis technology for DNA analysis.
  • Circularization of specific DNA target regions followed by multiplex amplification.

Main Results:

  • Successfully demonstrated parallel resequencing of 10 cancer genes, covering 177 exons.
  • Achieved an average sequence coverage of 93% per sample.
  • Identified multiple mutations and polymorphisms in seven cancer cell lines and one normal genomic DNA sample, including confirmation in the TP53 gene.

Conclusions:

  • The developed procedure enables efficient and comprehensive massively parallel resequencing of multiple human genes.
  • This method is effective for identifying genetic variations, including mutations and polymorphisms, in cancer-associated genes.
  • The approach provides a robust platform for genetic studies and diagnostics.