CAJ | 학술논문

全基因组外显子测序是指利用序列捕获技术将全基因组外显子区域DNA捕捉并富集,然后进行高通量测序的基因组分析方法.与传统测序方式相比,该技术具有耗时短、成本低、通量大,对样品的要求量少等特点,已经成为人们研究某些疾病致病基因的重要方法.此文就全基因组外显子测序的优缺点及其在遗传病中的应用作简要综述.
전기인조외현자측서시지이용서렬포획기술장전기인조외현자구역DNA포착병부집,연후진행고통량측서적기인조분석방법.여전통측서방식상비,해기술구유모시단、성본저、통량대,대양품적요구량소등특점,이경성위인문연구모사질병치병기인적중요방법.차문취전기인조외현자측서적우결점급기재유전병중적응용작간요종술.
Whole-exome sequencing refers to a gene sequencing technology that uses sequence capture technology to catch and enrich the Whole-exome DNA.The enriched target genomic DNA fragments can then be studied using the high-throughput sequencing technologies.Compared with the traditional sequencing technology,the whole-exome sequencing has been porved to be time-saving,costeffective,and with high-throughput.It becomes an important technology for researchers to study the genes related to human disease.The goal of this review is to outline the principle of whole-exome sequencing and its implication in the diagnosis and study of hereditary diseases.