Application of Next Generation Sequencing in Laboratory Medicine

Overview

Journal Ann Lab Med

Specialty Pathology

Date 2020 Aug 25

PMID 32829577

Citations 85

Authors

Yiming Zhong

Feng Xu

Jinhua Wu

Jeffrey Schubert

Marilyn M Li

Affiliations

Soon will be listed here.

Abstract

The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation, has facilitated its wide clinical application in precision medicine. This review describes current sequencing technologies, including short- and long-read sequencing technologies, and highlights the clinical application of NGS in inherited diseases, oncology, and infectious diseases. We review NGS approaches and clinical diagnosis for constitutional disorders; summarize the application of U.S. Food and Drug Administration-approved NGS panels, cancer biomarkers, minimal residual disease, and liquid biopsy in clinical oncology; and consider epidemiological surveillance, identification of pathogens, and the importance of host microbiome in infectious diseases. Finally, we discuss the challenges and future perspectives of clinical NGS tests.

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