Application of whole exome sequencing technology in the diagnosis of neonatal genetic diseases
10.3760/cma.j.issn.1673-4408.2021.01.003
- VernacularTitle:全外显子组测序技术在新生儿遗传病诊断中的应用
- Author:
Hao WEI
;
Jingbin YAN
- From:
International Journal of Pediatrics
2021;48(1):9-13
- CountryChina
- Language:Chinese
-
Abstract:
Genetic diseases that have shown clinical symptoms in neonatal period are often characterized with atypical symptoms and serious condition, which contributes to difficulties in diagnosis and treatment.With the progress of sequencing technology, the next-generation sequencing technology is gradually applied to the clinical field with its advantages of high throughput, low cost and rapid detection.As one of next-generation sequencing technologies, the whole exome sequencing technology(WES)captures, enriches and sequences the genomic exon regions, and then the large amount of WES data is analyzed by bioinformatics methods and screened to find variant site in gene that causes genetic disease.WES technology has gradually become an important means of diagnosis in neonatal genetic diseases because of its advantages of comprehensive results and short reporting period.
