Optical genome mapping technology and its applications in genetic disease diagnosis
10.3760/cma.j.cn511374-20240829-00456
- VernacularTitle:光学基因组图谱技术及其在遗传病诊断中的应用
- Author:
Jianlin ZHANG
1
;
Junrong ZHANG
1
;
Min SU
1
;
Yuquan ZHANG
1
Author Information
1. 南通大学附属医院妇产科，南通 226001
- Publication Type:Journal Article
- Keywords:
Optical genome mapping;
Genetic diseases;
Genetic diagnosis;
Genomics;
Chromosome aberrations;
Chromosomal structural variation;
Copy number variation;
Chrom
- From:
Chinese Journal of Medical Genetics
2024;41(12):1496-1502
- CountryChina
- Language:Chinese
-
Abstract:
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 clinical applications in the diagnosis of genetic disorders.
