JOURNAL OF NANJING FORESTRY UNIVERSITY ›› 2016, Vol. 40 ›› Issue (04): 157-163.doi: 10.3969/j.issn.1000-2006.2016.04.025

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A review on exome sequencing technique

MA Qiuyue, DAI Xiaogang, LI Shuxian   

  1. Key Lab of Forest Genetics and Biotechnology, Ministry of Education, College of Forestry, Nanjing Forestry University, Nanjing 210037, China
  • Online:2016-08-18 Published:2016-08-18

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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