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Whole Exome Sequencing

The exome represents less than 2% of the human genome, but contains ~80-90% of known disease-causing variants, making whole-exome sequencing a cost-effective alternative to whole-genome sequencing.
We offer exome enrichment with the latest version of Illumina and Agilent capture kits:

  • Illumina Nextera® Rapid Capture Exome (target region size: 37Mb)
  • Illumina Nextera® Rapid Capture Expanded Exome that includes untranslated regions (UTRs) and miRNA binding sites as well as exons (target region size: 62Mb)
  • Agilent SureSelectQXT Human All Exon V6 (target region size: 60Mb)
We recommend a medium coverage of 80x for somatic variants detection and a coverage of 50x for germline variants and SNPs detection.
Exome sequencing data can be analyzed to detect SNPs and InDels in the coding region.
In addition, comparing case vs control sample (e.g.: tumor vs normal or kindred) we can provide complete comparative analysis to identify:
  • Point mutations
  • Splicing variants: point mutations in intronic regions near mRNA splice junctions that affect the splicing process
  • Copy number alterations and allelic-imbalance
We can also offer exome enrichment systems for mouse, bovine and zebrafish thanks to Agilent SureSelect Non-human exomes technologies.
For further information please fill out the form or write to