基因检测在临床与科研中的应用

基金项目:

海南省自然科学基金项目（813221）；解放军总医院临床扶持基金（2021FC-CXYY-1005）

详细信息

Genetic testing in clinical and basic science research

Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China

Funds:

Supported by the Natural Science Foundation of Hainan Provience(813221)

摘要

摘要: 近年来，基因检测在临床疾病诊断和科学研究中发挥着越来越重要的作用。特别是新一代测序（next-generation sequencing，NGS）技术的出现使许多疾病的致病基因被发现，大量科研成果不断涌现出来，极大地提高了临床诊断水平和科研水平。本文重点介绍了几种常见的基因测序技术，比较其优缺点和在疾病诊断及科研中的应用，旨在对研究生、临床医生在疾病诊断和科研工作中起到促进作用。
- 基因 /
- 遗传 /
- 外显子组测序
Abstract: Recently genetic testing has played an increasingly substantial role in the diagnosis of clinical disease as well as basic science research. Owing to the application of next-generation sequencing (NGS) technology, more and more pathogenic genes are found, which tremendously improve both clinical practice and science research. This article therefore aimes to highlight several genetic sequencing techniques that are commonly used, to compare their advantages and disadvantages in both disease diagnosis and science research, and to facilitate postgraduate students and clinicians in their clinical practice and scientific activities.
- genes /
- inheritance /
- exome sequencing