Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders.
10.3760/cma.j.issn.1003-9406.2011.05.011
- VernacularTitle:外显子组测序是发现单基因病致病基因的捷径
- Author:
Nuli REBIYA
1
;
Mohemaiti PATAMU
Author Information
1. Department of Occupational and Environmental Health, Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.
- Publication Type:Journal Article
- MeSH:
Exome;
genetics;
Genetic Association Studies;
Genetic Diseases, Inborn;
genetics;
Humans;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2011;28(5):525-527
- CountryChina
- Language:Chinese
-
Abstract:
The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.
