Whole Exome Sequencing

The exome is the protein-coding region of the human genome. Although there are over 3 billion base pairs in the human genome, the exome is representative of only 2%. Approximately 85% of all known disease related variants are located within the exome, which allows researchers to focus their resources if they are interested in disease causing variants. 

Not only does exome sequencing allow detection of various coding exons there it also the ability to expand targets to include untranslated regions (UTRs) and microRNA for a comprehensive view of gene regulation. Whole exome sequencing provides a targeted, cost-effective solution in comparison to whole genome sequencing, particularly if researchers are interested in genes that affect phenotype.

Advantages of Exome Sequencing

  • Allows identification of variants across a wide range of applications
  • Provides comprehensive coverage of coding regions
  • Is a cost-effective alternative to whole-genome sequencing (4–5 Gb of sequencing per exome)
  • Produces a smaller and more manageable data set for rapid data analysis in comparison to whole-genome approaches

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