中文摘要：

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。

英文摘要：

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.