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|Table of Contents|

外显子组测序技术述评(PDF)

《南京林业大学学报(自然科学版)》[ISSN:1000-2006/CN:32-1161/S]

Issue:
2016年04期
Page:
157-163
Column:
综合述评
publishdate:
2016-08-30

Article Info:/Info

Title:
A review on exome sequencing technique
Article ID:
1000-2006(2016)04-0157-07
Author(s):
MA Qiuyue DAI Xiaogang LI Shuxian
Key Lab of Forest Genetics and Biotechnology, Ministry of Education, College of Forestry, Nanjing Forestry University, Nanjing 210037, China
Keywords:
exome sequencing sequence capture high throughput sequencing genetic diagnosis
Classification number :
Q78
DOI:
10.3969/j.issn.1000-2006.2016.04.025
Document Code:
A
Abstract:
The exome sequencing mainly includes three steps: enriching the target region, DNA sequencing, bioinformatics 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 acquisition 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 diseases in the molecular mechanism. It can also detect successfully the nucleotide variations in the target coding region in animal 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.

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Last Update: 2016-08-30