Exome Sequencing Analysis

Exome Sequencing Analysis

Targeted resequencing by massively parallel sequencing, which includes whole-exome sequencing (WES), is a well-established and cost-effective means to analyse specific regions of a genome. Reducing the target size and focusing on the regions most likely to yield relevant data enhances sensitivity through increasing depth of coverage and therefore the likelihood of new discoveries.

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The protein coding, or exonic regions, constitute ~1.5% of the human genome. An estimated 85% of known variations/mutations underlying disease-related traits occur in the exons of the genome. Exome sequencing provides a cost-effective alternative to whole genome sequencing and has been instrumental in applications such as:

  • Characterization of mutations in inherited disorders.
  • Cancer gene mutation analysis.
  • Understanding of complex genetic disorders.
  • Effective treatment strategies for cancer.

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