光学基因组定位技术及其在遗传病诊断中的应用

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2024-12-10 DOI:10.3760/cma.j.cn511374-20240829-00456

Jianlin Zhang, Junrong Zhang, Min Su, Yuquan Zhang

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引用次数: 0

摘要

光学基因组作图（OGM）是一种基于物理作图的新兴遗传病检测技术，它可以在全基因组范围内检测数字染色体异常、拷贝数变异（CNV）和结构变异（SV）。近年来，多项研究证明，与传统遗传技术相比，OGM作为新一代的细胞基因组技术，具有更高的分辨率和更强的发现基因组变异的能力。本文系统地综述了OGM技术的原理、特点、优点和局限性及其在遗传病诊断中的应用。

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[Optical genome mapping technology and its applications in genetic disease diagnosis].

Optical genome mapping (OGM) is an emerging technology for the detection of genetic diseases based on physical mapping, which can detect numerical chromosomal abnormalities, copy number variation (CNV) and structural variation (SV) on a genome-wide scale. In recent years, a number of studies have proved that OGM, as a new generation of cytogenomic technique, has higher resolution and stronger ability to discover genomic variants compared with conventional genetic techniques. This article has systematically reviewed the principles, characteristics, advantages and limitations of OGM technology, and its applications in the diagnosis of genetic disorders.

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.