中华耳科学杂志Issue(1)：179-182,4.DOI:10.3969/j.issn.1672-2922.2015.01.035
全外显子组测序技术及其在遗传性耳聋研究中的应用
Whole Exome Sequencing and Its Application in Genetic Hearing Loss Research
摘要
Abstract
In recent years, the rapid development of whole exome sequencing (WES) has brought new opportunities for the study of genetic diseases. It has been attached importance and applied to many types of genetic diseases, especially heredi⁃tary hearing loss. WES uses target capture methods to enrich sequences of coding regions of genes throughout the genome, fol⁃lowed by high-throughput sequencing of the captured fragments. This article mainly reviews the technology of whole exome sequencing as well as its recent applications to the study of hereditary hearing loss and relevant achievements.关键词
外显子组测序/遗传性耳聋/致病基因Key words
Whole exome sequencing/Genetic hearing loss/Causative gene分类
医药卫生引用本文复制引用
姜海鸥,全庆丽,胡祥上,王义旺..全外显子组测序技术及其在遗传性耳聋研究中的应用[J].中华耳科学杂志,2015,(1):179-182,4.基金项目
2012年怀化市科技计划项目 （）
