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Application of Next Generation Sequencing in Laboratory Medicine
Annals of Laboratory Medicine ; : 25-43, 2021.
Article in English | WPRIM | ID: wpr-874139
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: Available Index: WPRIM (Western Pacific) Language: English Journal: Annals of Laboratory Medicine Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: English Journal: Annals of Laboratory Medicine Year: 2021 Type: Article