南京林业大学学报（自然科学版）2016，Vol.40Issue(4)：157-163,7.DOI:10.3969/j.issn.1000-2006.2016.04.025
外显子组测序技术述评
A review on exome sequencing technique
摘要
Abstract
The exome sequencing mainly includes three steps: enriching the target region, DNA sequencing, bioinfor⁃matics analysis. The authors give a brief introduction on the exome sequencing technique and its application in genetic studies, discuss its advantages and disadvantages and propose its application prospect in future studies. Compared with the transcriptome and the whole genome sequencing techniques, it is more efficient, more time and labor saving in ac⁃quisition of large sequencing data of the encoding genes. Moreover, compared with Genome⁃wide association analysis ( GWAS) , it can effectively detect the rare variation in exonic DNA sequences. However, it can not detect the large structural variation and the information of introns in the genome level. At present, this technique can accurately find the Mendel disease⁃causing gene underlying both the single gene associated diseases and the multiple gene associated disea⁃ses in the molecular mechanism. It can also detect successfully the nucleotide variations in the target coding region in an⁃imal and plant genetic studies. With the completion of the pattern of woody plants genome sequencing, some important traits gene could be located by this technique, such as sex, plant resistance, growth etc. It will bring broad application prospects.关键词
外显子组测序/序列捕获/高通量测序/遗传诊断Key words
exome sequencing/sequence capture/high throughput sequencing/genetic diagnosis分类
生物科学引用本文复制引用
马秋月,戴晓港,李淑娴..外显子组测序技术述评[J].南京林业大学学报（自然科学版）,2016,40(4):157-163,7.基金项目
国家林业公益性行业科研重大项目（201304102）；江苏省创新团队项目；江苏高校优势学科建设工程资助项目（PAPD）；南京林业大学优博基金项目 （）
