Review Article

Ann Lab Med 2021; 41(1): 25-43

Published online January 1, 2021

Copyright © Korean Journal of Laboratory Medicine.

Application of Next Generation Sequencing in Laboratory Medicine

Yiming Zhong, Ph.D1,2 , Feng Xu, Ph.D1 , Jinhua Wu, Ph.D1 , Jeffrey Schubert, Ph.D1 , and Marilyn M. Li, M.D1,2,3

1Department of Pathology & Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA; 2Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; 3Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

Correspondence to: Yiming Zhong, Ph.D.
Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia, Perelman School of Medicine at University of Pennsylvania 3615 Civic Center Blvd, 716H ARC Philadelphia, PA 19104, USA
Tel: +1-215-5900488
Fax: +1-215-5902156

Received: February 27, 2020; Revised: March 24, 2020; Accepted: August 7, 2020

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.

Keywords: Next-generation sequencing, Oncology, Constitutional disorders, Infectious diseases