外显子测序技术在疾病研究中的应用 |
| |
引用本文: | 辜清泉,杨琳,杨旭.外显子测序技术在疾病研究中的应用[J].现代医学仪器与应用,2011(5). |
| |
作者姓名: | 辜清泉 杨琳 杨旭 |
| |
作者单位: | 深圳华大基因研究院; |
| |
基金项目: | 深圳市科技和信息局项目(2011CB809200) |
| |
摘 要: | 新一代测序技术的发展为疾病研究带来了新的机遇。在现阶段,外显子测序与全基因组测序相比,不仅费用更低,数据的阐释也更为简单。通过对疾病样本进行外显子组捕获测序,不仅能快速发现罕见遗传疾病的致病基因,也能用于研究多基因引起的常见疾病,如癌症、糖尿病、高血压等,来揭示这些疾病的遗传致病机理。外显子测序技术是当前的热点技术,极大地推动了疾病研究的进展。
|
关 键 词: | 外显子组 目标捕获 高通量测序 疾病研究 |
The application of exome sequencing in disease research |
| |
Authors: | GU Qingquan YANG Lin YANG Xu |
| |
Institution: | GU Qingquan,YANG Lin,YANG Xu (BGI-Shenzhen,Guangdong,Shenzhen 518083,China) |
| |
Abstract: | The next-generation sequencing technologies have brought new sight into disease research.Exon sequencing,which just focuses on the best understood 1% of the genome,the protein-coding region,is a more cost- and time-efficient manner.Targeted capture combined with massively parallel exon sequencing is a promising approach to identify genetic variants implicated in human traits.As the hot,spot of current technology,exon sequencing greatly promoted the disease studies,such as diabetes,hypertension and cancer. |
| |
Keywords: | Exome Target capture High-throughput sequencing Disease research |
本文献已被 CNKI 等数据库收录! |
|