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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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: Mar 25, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Effective quality management practices in routine clinical next-generation sequencing.

Francine B de Abreu, Jason D Peterson, Christopher I Amos

    Clinical Chemistry and Laboratory Medicine
    |February 13, 2016
    PubMed
    Summary

    Next-generation sequencing (NGS) effectively identifies cancer somatic variants for personalized treatment. This study details NGS quality control and variant findings in over 1000 tumor samples, aiding clinical decisions.

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    Area of Science:

    • Oncology
    • Genomics
    • Molecular Diagnostics

    Background:

    • Molecular technologies enable cancer profiling through somatic variant detection.
    • Next-generation sequencing (NGS) is crucial for personalized patient care in oncology.
    • Establishing robust laboratory quality management is vital for accurate NGS testing.

    Purpose of the Study:

    • To describe the laboratory quality management program for NGS testing.
    • To provide an overview of somatic variants identified in over 1000 patient samples.
    • To discuss the clinical implications of identified somatic variants.

    Main Methods:

    • 1028 formalin-fixed, paraffin-embedded (FFPE) tumor tissues were analyzed.
    • A comprehensive quality control (QC) program was implemented across multiple stages of NGS.
    • Genomic DNA was used to prepare libraries for sequencing on the Ion Torrent PGM System.

    Main Results:

    • 877 samples were successfully sequenced after passing QC checkpoints.
    • 750 samples were positive for somatic variants, while 127 were wild-type.
    • 60% of identified somatic variants were clinically actionable.

    Conclusions:

    • NGS enables the detection of tumor profiles critical for targeted therapy selection.
    • NGS facilitates the identification of patients eligible for clinical trials.
    • Routine clinical application of NGS improves personalized patient care in oncology.