Optical genome mapping technology and its applications in genetic disease diagnosis.
10.3760/cma.j.cn511374-20240829-00456
- Author:
Jianlin ZHANG
1
,
2
;
Junrong ZHANG
;
Min SU
;
Yuquan ZHANG
Author Information
1. Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China. jsnt_zhangyuquan@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
DNA Copy Number Variations;
Chromosome Mapping/methods*;
Genetic Diseases, Inborn/diagnosis*;
Genome, Human
- 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 applications in the diagnosis of genetic disorders.
