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靶向测序方法及其在人类疾病分子诊断中的临床应用。

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

机构信息

Department of Applied Biology & Chemical Technology, The Hong Kong Polytechnic University, Hong Kong 999077, China.

Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong 999077, China.

出版信息

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.

摘要

COVID-19 的爆发最近对 NGS 市场产生了积极影响。靶向测序(TS)已成为临床和研究环境中的重要常规技术,其优点包括高可信度和准确性、合理的周转时间、相对较低的成本,以及较低的生物信息学或计算需求的数据负担。由于没有关于广泛的下一代测序(NGS)平台和技术的明确共识指南,研究人员和临床医生迫切需要开发有效的方法,特别是在疾病紧急情况和 COVID-19 全球大流行期间对疾病进行分子诊断。在这篇综述中,我们旨在总结不同的 TS 方法,展示 TS 分析设计的参数,说明不同的 TS 面板,讨论它们的局限性,并提出 TS 用于人类疾病的分子诊断的临床应用所面临的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6521/9913990/90866ee96b8b/cells-12-00493-g001.jpg

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