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Exome Sequencing

Exome Sequencing

A complete exome sequencing service designed to enrich & capture exonic regions of interest in the genome. 

Exome sequencing is an excellent tool for investigating disease or protein formation.

The exonic regions of the genome are converted into RNA post transcription, and proteins post translation. Exome sequencing targets the regions of the genome which eventually become proteins. While exomes comprise only 2% of the genome, they contain ~85% of disease-causing variants.

By exclusively examining the coding regions, the amount of sequencing data required per sample is drastically reduced, in comparison to whole genome sequencing. This targeted approach permits more coverage per sample, thereby enabling high-confidence detection of low frequency mutations.

Source BioScience Exome Sequencing Service

Systematically detect common and rare variants with our exome sequencing service.

Our highly accredited service combines experienced scientists and in-house bioinformaticians, state of the art Illumina sequencing platforms, and an extensive choice of exome enrichment kits.   

Features and benefits of our service include:

  • Project manager assigned to every project
  • Illumina CSPro, GCP and CPA accredited
  • Agilent certified 
  • More cost effective than whole genome sequencing
  • Low DNA input ‹1µg
  • Fast turnaround times
  • Advanced Bioinformatic support

Quality assurance

We operate to a unique set of quality standards: we are CPA and GCP accredited and we are also Agilent and Illumina CSPro certified. This commitment to quality ensures that we deliver the highest quality data and service across every aspect of our business.


For further information and prices please contact us or call +44 (0)115 973 9012

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