TY - JOUR
T1 - Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases
AU - Pei, Xiao Meng
AU - Yeung, Martin Ho Yin
AU - Wong, Alex Ngai Nick
AU - Tsang, Hin Fung
AU - Yu, Allen Chi Shing
AU - Yim, Aldrin Kay Yuen
AU - Wong, Sze Chuen Cesar
N1 - Funding Information:
This study was supported by the Research Grants Council Hong Kong, Hong Kong Innovation and Technology Fund University-Industry Collaborative Programme (Grant Numbers: RGCQ71P and UIM/354, respectively) and Lim Peng Suan Charitable Trust Research Grant (Grant Number: R-ZH5G) for S.C.C.W.
Publisher Copyright:
© 2023 by the authors.
PY - 2023/2/15
Y1 - 2023/2/15
N2 - 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.
AB - 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.
KW - bacteria identification
KW - cancer marker detection
KW - COVID-19 detection
KW - molecular diagnosis
KW - next-generation sequencing
KW - targeted sequencing
UR - http://www.scopus.com/inward/record.url?scp=85147814326&partnerID=8YFLogxK
U2 - 10.3390/cells12030493
DO - 10.3390/cells12030493
M3 - Review article
C2 - 36766834
AN - SCOPUS:85147814326
SN - 2073-4409
VL - 12
JO - Cells
JF - Cells
IS - 3
M1 - 493
ER -