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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

88.9K
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....
88.9K

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Updated: Jul 6, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Current updates in sarcoma biomarker discovery: emphasis on next-generation sequencing-based methods.

Ashley Patton1, Josephine K Dermawan2

  • 1Department of Pathology & Laboratory Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

Pathology
|January 7, 2024
PubMed
Summary

Molecular analysis is revolutionizing the diagnosis of soft tissue sarcomas, a challenging cancer group. Advances in techniques like next-generation sequencing and liquid biopsies promise improved accuracy and targeted treatments.

Keywords:
DNA methylationSarcomasbiomarkersliquid biopsynext-generation sequencing

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Area of Science:

  • Oncology
  • Molecular Pathology
  • Genomics

Background:

  • Soft tissue sarcomas are a diverse group of cancers, representing 2% of adult malignancies.
  • Histomorphological classification poses significant diagnostic challenges.
  • Molecular characterization is crucial for improving diagnostic accuracy and developing targeted therapies.

Purpose of the Study:

  • To review recent advances in molecular techniques for soft tissue sarcoma characterization.
  • To highlight current and emerging molecular methods for improved diagnosis and targeted therapy development.

Main Methods:

  • Review of current next-generation sequencing (NGS) based assays: RNA sequencing for fusion detection, targeted/whole exome sequencing, and microRNA profiling.
  • Discussion of emerging molecular techniques: liquid biopsies, DNA methylation profiling, single-cell molecular profiling, and next-generation immunohistochemistry.

Main Results:

  • NGS-based assays are enhancing the characterization of soft tissue sarcomas.
  • Emerging techniques show potential for future clinical applications in diagnosis and therapy.

Conclusions:

  • Molecular analysis is rapidly evolving, offering significant improvements in diagnosing soft tissue sarcomas.
  • Future clinical applications of these advanced molecular techniques will enhance patient care and treatment strategies.