Exome Sequencing

What Is Exome Sequencing?

Exons are parts of eukaryotic genes that remain after splicing and can be expressed as proteins during protein biosynthesis. Exons are the last gene sequences to appear in mature RNA, also known as expressed sequences. It is a nucleotide sequence that is present in both the initial transcription product and in the mature RNA molecule. All exons are called exome. There are approximately 180,000 exomes in the human genome, representing 1% of the human genome, or about 30 MB. Exome sequencing is a genomic analysis method that uses sequence capture technology to capture and enrich DNA from exonic regions of the entire genome for high-throughput sequencing.

In terms of years' professional experience in this field, Creative Biogene can provide you with the most affordable and high-quality exome sequencing services.

The process of exome sequencing.Figure 1. The process of exome sequencing.

Advantages of Our Exome Sequencing

  • Identify variants in multiple applications
  • Achieves comprehensive coverage of coding regions
  • Provides an economical alternative to whole-genome sequencing (only 4-5 Gb of data per exome compared to approximately 90 Gb of data per human whole genome)
    Because exome sequencing can simply target DNA in exonic regions (currently more than 85% of diseases caused by DNA variants are estimated to arise from variants in exome regions).
  • Smaller and more manageable datasets than whole genome sequencing, allowing for faster and easier data analysis
  • Exome sequencing is an efficient strategy to identify causal changes in rare Mendelian genetic diseases, such as Miller syndrome, Kabuki syndrome, and severe craniosynostosis.

Analysis of Standard Information

  • Filtering processes such as de-contamination and de-low quality
  • Statistics of data output
  • Histogram of exon region sequencing depth
  • Detection of SNPs
  • Annotation of SNPs
  • Detection of insertions and deletions (Indels)
  • Annotation of insertions and deletions (Indels)

Analysis of Personalized Information

  • Predictive analysis of amino acid substitutions
  • Population SNP acquisition and allele frequency assessment
  • Mendelian disorder analysis Mendelian genetic disease analysis
  • Next-generation sequencing-based whole genome association (NGS-GWAS) analysis
  • Exon fusion analysis
  • Gene fusion

Applications of Exome Sequencing

  • Detection of genetic disorders

Genetic disorders include monogenic and, polygenic disorders, chromosomal abnormalities, mitochondrial genetic disorders, and somatic genetic disorders.

Monogenic diseases, also called Mendelian diseases, are diseases caused by mutations in a single gene and are often present in family lines in a Mendelian inheritance pattern.

  • Discovery of oncogenes and oncogenes

Mutations in exonic regions predispose to the production of non-functional proteins and are even associated with the ability of cells to become cancerous. This has important implications for markers and therapy.

  • Molecular tumor typing


  1. Li, M., Zhao, H., Zhang, X. and et al. (2011). "Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma." Nature Genetics. doi:10.1038/ng.903.
  2. Bekheirnia M R, Bekheirnia N, Bainbridge M N and et al. (2016) "Whole-exome sequencing." Genetics in Medicine. doi:10.1007/s00439-019-02008-6.
* It should be noted that our service is only used for research, not for clinical use.
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