GENEWIZ Exome Sequencing

The exome and untranslated regulatory regions (UTRs) comprise only 1-2 % of the human genome, yet house as many as 85% of disease-related mutations. As a research tool, exome sequencing is a powerful way to investigate common and rare genetic variations that play a role in complex human diseases.

GENEWIZ provides complete solutions for exome sequencing projects from experimental design through advanced bioinformatics analysis.

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Common Applications:

  • Discover relevant mutations across all coding regions and UTRs
  • Characterize genotype-phenotype relationships
  • Determine important disease-related variations
  • Profile multiple low-frequency genotypes at the population level
  • Conduct variant association studies

Features & Benefits:

  • Availability of major exome targeting technologies
  • Comprehensive suite of bioinformatics solutions
  • Customizable depth of coverage to focus on common and/or rare variants
  • Dedicated support from GENEWIZ scientists

Sample Submission:

  • Purified genomic DNA
  • Cell cultures or pellets
  • Formalin-fixed, paraffin-embedded (FFPE) thin sections (slides)


  • Raw data as FASTQ files
  • Variant discovery
  • Customized data analysis

Exome Sequencing Workflow:

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