Application of Next Generation Sequencing in Laboratory Medicine
Zhong Yiming, Xu Feng, Wu Jinhua, Schubert Jeffrey, Li Marilyn M.,
소속 상세정보
( Zhong Yiming )
Children’s Hospital of Philadelphia Department of Pathology and Laboratory Medicine
( Xu Feng )
Children’s Hospital of Philadelphia Department of Pathology and Laboratory Medicine
( Wu Jinhua )
Children’s Hospital of Philadelphia Department of Pathology and Laboratory Medicine
( Schubert Jeffrey )
Children’s Hospital of Philadelphia Department of Pathology and Laboratory Medicine
( Li Marilyn M. )
Children’s Hospital of Philadelphia Department of Pathology and Laboratory Medicine
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.
키워드
Next-generation sequencing; Oncology; Constitutional disorders; Infectious diseases
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