Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases.
Xiao Meng PeiMartin Ho Yin YeungAlex Ngai Nick WongHin Fung TsangAllen Chi Shing YuAldrin Kay Yuen YimSze Chuen Cesar WongPublished in: Cells (2023)
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.
Keyphrases
- coronavirus disease
- sars cov
- endothelial cells
- low cost
- clinical practice
- induced pluripotent stem cells
- single cell
- cancer therapy
- emergency department
- public health
- pluripotent stem cells
- healthcare
- respiratory syndrome coronavirus
- high throughput
- gene expression
- copy number
- dna methylation
- machine learning
- genome wide
- deep learning