Advancements in the application of RNA sequencing for genetic disorder diagnosis
10.3760/cma.j.cn511374-20240821-00452
- VernacularTitle:转录组测序技术在遗传病诊断中的应用
- Author:
Jun AN
1
;
Kexin GUO
;
Ping HU
Author Information
1. 南京医科大学附属妇产医院 南京市妇幼保健院产前诊断中心，南京 210004
- Publication Type:Journal Article
- Keywords:
Genetic disorder;
Mendelian disorder;
Genetic diagnosis;
RNA sequencing;
Exome sequencing;
Whole genome sequencing
- From:
Chinese Journal of Medical Genetics
2025;42(2):238-243
- CountryChina
- Language:Chinese
-
Abstract:
Next generation sequencing (NGS) technologies, including whole exome sequencing (WES) and whole genome sequencing (WGS), have greatly increased the diagnostic rates for genetic disorders. However, challenges still remain with the interpretation of variants of uncertain significance (VUS), variants in non-coding regions, and understanding of the effects of such variants on downstream genes. As a result, the diagnostic rates have typically ranged from 25% to 57%. RNA sequencing (RNA-seq) can complement DNA sequencing by revealing the functional consequences of genetic variants through the detection of aberrant gene expression, abnormal splicing events, allele-specific expression, and fusion gene expression. This has further increased the diagnostic rate of genetic disorders and enriched their therapeutic strategies. By broadening the scope of conventional genomic diagnostic methods, RNA-seq is poised to become a novel tool for the diagnosis of genetic disorders. This review has explored the methodologies and technical characteristics of RNA-seq by focusing on its recent advancement in clinical diagnosis, applications in undiagnosed genetic disorders, and the main challenges encountered.
