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Review
. 2018 May 6:5:2374289518766521.
doi: 10.1177/2374289518766521. eCollection 2018 Jan-Dec.

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

Yuriy O Alekseyev  1 , Roghayeh Fazeli  1 , Shi Yang  1 , Raveen Basran  1 , Thomas Maher  1 , Nancy S Miller  1 , Daniel Remick  1
Affiliations
Review

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

Yuriy O Alekseyev et al. Acad Pathol. .

Abstract

Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility. Next-generation sequencing technology grew out of advances in multiple fields to produce a sophisticated laboratory test with tremendous potential. Next-generation sequencing may be used in the clinical setting to look for specific genetic alterations in patients with cancer, diagnose inherited conditions such as cystic fibrosis, and detect and profile microbial organisms. This primer will review DNA sequencing technology, the commercialization of next-generation sequencing, and clinical uses of next-generation sequencing. Specific applications where next-generation sequencing has demonstrated utility in oncology are provided.

Keywords: diagnostic test; microbiology; mutation; oncology; sequencing.

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Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Schematic of sample processing for next-generation sequencing. See Table 1 for definitions of specific terms.
See this image and copyright information in PMC

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