期刊
JOURNAL OF CLINICAL PATHOLOGY
卷 76, 期 1, 页码 59-63出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jclinpath-2021-208105
关键词
pathology; molecular; medical oncology; genes; neoplasm; genetics
类别
This report illustrates three potential pitfalls related to amplicon-based NGS assays and highlights strategies to minimize such risks.
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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