Update in the application of exome sequencing for etiology of the unexplained intellectual disabilities
10.3760/cma.j.issn.1673-4408.2016.07.011
- VernacularTitle:外显子测序在不明原因智力障碍病因学研究的应用进展
- Author:
Pu MIAO
- Publication Type:Journal Article
- Keywords:
Whole exome sequencing;
Intellectual disability;
Etiology
- From:
International Journal of Pediatrics
2016;43(7):557-559,563
- CountryChina
- Language:Chinese
-
Abstract:
Intellectual disability is a genetically heterogeneous disease,however,more than half of the genetic etiologies still remain unexplained.Since whole exome sequencing is applied for intellectual disability,a mature work flow has been established,which firstly discovered some important causative genes.This paper reviews the application,advantages and disadvantages of whole exome sequencing for sporadic,unexplained intellectual disability.
