[The application of exome sequencing in human disease].
Yi Chuan
; 36(11): 1077-86, 2014 Nov.
Article
em Zh
| MEDLINE
| ID: mdl-25567866
ABSTRACT
It is estimated that approximately 85% of human disease mutations are located in protein coding regions, therefore selectively sequencing all protein coding regions (exome) would be cost-effective and an alternative strategy to identify diseases' varaints. In 2009, scientists successfully identified one missense mutation in MYH3 among 4 individuals with Freeman Sheldon syndrome (one autosomal dominant disease) through exome sequencing. Since then, exome sequencing has been widely used to identify disease causative or susceptibility genes in Mendelian disorders and complex diseases. The application of exome sequencing in human diseases were summarized in this review.
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Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
/
Exoma
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2014
Tipo de documento:
Article