Strategies for exome sequence data analysis for discovering genes underlying autosomal recessive disorders.
10.3760/cma.j.issn.1003-9406.2012.05.012
- Author:
Zi-xiong ZHAN
1
;
Zhao-ting HU
;
Lu SHEN
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
- Publication Type:Journal Article
- MeSH:
Cloning, Molecular;
Exome;
Genes, Recessive;
Genetic Diseases, Inborn;
genetics;
Humans;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2012;29(5):558-561
- CountryChina
- Language:Chinese
-
Abstract:
Introduced in 2009, whole-exome sequencing (WES) is a technology in which target capture methods are used to enrich sequences of coding regions of genes from fragmented total genomic DNA, which is followed by high-throughput sequencing of the captured fragments. As reported, WES has been successfully applied for discovering genes underlying several Mendelian diseases, especially autosomal recessive types. In this review, authors have summarized the main computational strategies which have been applied to identify novel autosomal recessive diseases genes using whole-exome data.
