Potential pitfalls in multiplex PCR-based next-generation sequencing: a case-based report.

Journal of clinical pathology(2023)

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摘要
Amplicon-based next-generation sequencing (NGS) assays employ highly sensitive, rapid, and cost-effective methods to detect clinically actionable mutations for the diagnosis, prognosis, and treatment of patients with cancer. However, recognition of certain limitations inherent to amplicon-based NGS assays is crucial for the correct interpretation and reporting of variants in the clinical setting. In this report, we illustrate three different potential pitfalls related to amplicon-based NGS assays based on our institutional experience and highlight how the risk of such events can be minimised.
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关键词
genes,genetics,medical oncology,molecular,neoplasm,pathology
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