Ann Lab Med.
2021 Jan;41(1):25-43. 10.3343/alm.2021.41.1.25.
Application of Next Generation Sequencing in Laboratory Medicine
- Zhong Y
1,2 - Xu F1
- Wu J1
- Schubert J1
- Li MM1,2,3
- Affiliations
-
- 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
- KMID: 2512731
- DOI: http://doi.org/10.3343/alm.2021.41.1.25
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Recent Advances in the Clinical Application of Next-Generation Sequencing
- Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
- Principles of Genetic Counseling in the Era of Next-Generation Sequencing
- Essential Elements for Establishing Clinical Next-generation Sequencing Testing
- Ultra-rare Disease and Genomics-Driven Precision Medicine
