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

Cells. 2023 Feb 2;12(3):493. doi: 10.3390/cells12030493.

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: COVID-19 detection; bacteria identification; cancer marker detection; molecular diagnosis; next-generation sequencing; targeted sequencing.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • COVID-19 Testing
  • COVID-19* / diagnosis
  • Computational Biology
  • Consensus
  • Genetic Testing / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans

Grants and funding

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.