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Volume 12
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10.3390/cells12030493
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Review

Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases

by
Xiao Meng Pei
1,†,
Martin Ho Yin Yeung
2,†,
Alex Ngai Nick Wong
2,
Hin Fung Tsang
2,3,*,
Allen Chi Shing Yu
4,
Aldrin Kay Yuen Yim
4 and
Sze Chuen Cesar Wong
1,*
1
Department of Applied Biology & Chemical Technology, The Hong Kong Polytechnic University, Hong Kong 999077, China
2
Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong 999077, China
3
Department of Clinical Laboratory and Pathology, Hong Kong Adventist Hospital, Hong Kong, China
4
Codex Genetics Limited, Unit 212, 2/F., Building 16W, No. 16 Science Park West Avenue, The Hong Kong Science Park, Hong Kong 852, China
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Cells 2023, 12(3), 493; https://doi.org/10.3390/cells12030493
Submission received: 18 December 2022 / Revised: 19 January 2023 / Accepted: 30 January 2023 / Published: 2 February 2023
(This article belongs to the Special Issue Autophagy in COVID-19 and/or Autoimmune Diseases)
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Abstract

The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted sequencing (TS) has become an important routine technique in both clinical and research settings, with advantages including high confidence and accuracy, a reasonable turnaround time, relatively low cost, and fewer data burdens with the level of bioinformatics or computational demand. Since there are no clear consensus guidelines on the wide range of next-generation sequencing (NGS) platforms and techniques, there is a vital need for researchers and clinicians to develop efficient approaches, especially for the molecular diagnosis of diseases in the emergency of the disease and the global pandemic outbreak of COVID-19. In this review, we aim to summarize different methods of TS, demonstrate parameters for TS assay designs, illustrate different TS panels, discuss their limitations, and present the challenges of TS concerning their clinical application for the molecular diagnosis of human diseases.
Keywords: molecular diagnosis; targeted sequencing; next-generation sequencing; COVID-19 detection; bacteria identification; cancer marker detection molecular diagnosis; targeted sequencing; next-generation sequencing; COVID-19 detection; bacteria identification; cancer marker detection

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MDPI and ACS Style

Pei, X.M.; Yeung, M.H.Y.; Wong, A.N.N.; Tsang, H.F.; Yu, A.C.S.; Yim, A.K.Y.; Wong, S.C.C. Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases. Cells 2023, 12, 493. https://doi.org/10.3390/cells12030493

AMA Style

Pei XM, Yeung MHY, Wong ANN, Tsang HF, Yu ACS, Yim AKY, Wong SCC. Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases. Cells. 2023; 12(3):493. https://doi.org/10.3390/cells12030493

Chicago/Turabian Style

Pei, Xiao Meng, Martin Ho Yin Yeung, Alex Ngai Nick Wong, Hin Fung Tsang, Allen Chi Shing Yu, Aldrin Kay Yuen Yim, and Sze Chuen Cesar Wong. 2023. "Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases" Cells 12, no. 3: 493. https://doi.org/10.3390/cells12030493

APA Style

Pei, X. M., Yeung, M. H. Y., Wong, A. N. N., Tsang, H. F., Yu, A. C. S., Yim, A. K. Y., & Wong, S. C. C. (2023). Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases. Cells, 12(3), 493. https://doi.org/10.3390/cells12030493

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