Journal
JOURNAL OF PERSONALIZED MEDICINE
Volume 12, Issue 5, Pages -Publisher
MDPI
DOI: 10.3390/jpm12050750
Keywords
NGS; diagnostics; precision medicine; biomarkers
Funding
- Italian Health Ministry/Veneto region research program [NET-2016-02363853, 22759]
- [RF GR-2019-12368592]
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This review provides an overview of the application of NGS in molecular diagnostics and discusses the technical issues and challenges associated with its incorporation in pathology diagnostics.
The introduction of next-generation sequencing (NGS) in the molecular diagnostic armamentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS raises technical issues and poses several challenges in terms of education, infrastructures and costs. The aim of this review is to give an overview of the main NGS sequencing platforms that can be used in current molecular diagnostics and gain insights into the clinical applications of NGS in precision oncology. Hence, we also focus on the preanalytical, analytical and interpretative issues raised by the incorporation of NGS in routine pathology diagnostics.
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