Whole Exome Sequencing Service and Testing

Otogenetics specializes in whole exome sequencing. Please specify your interest in research use only or diagnostic purposes when requesting additional information.

Otogenetics has robust experience in applying Whole Exome Sequencing for research discovery and clinical testing  

  • Researchers turn to us for their research human whole exome sequencing because of our ability to help them precisely select the Next-Generation Sequencing (NGS) services they need to best meet the needs of their unique research in a cost-effective way. Exome sequencing for mouse, zebrafish, canine, and other organisms is also available. 

  • Clinicians rely on us for clinical whole exome sequencing to provide them with the clinical insights they need quickly and efficiently, while making it easy to understand and interpret.
  • Check out publications to learn how Otogenetics assists researchers and clinician in discovery and diagnosis. 

What is Whole Exome Sequencing (WES)?

WES is a cost effective alternative to Whole Genome Sequencing (WGS). The human exome consists of approximately 180,000 exons, which constitutes about 1-2% of the human genome. These exon protein coding regions harbor variants which are much more likely to have severe consequences than those in the remaining 99% of the genome.  Instead of incurring the time and cost of sequencing the whole genome and the challenge to handle a vast dataset, many researchers and clinicians can obtain the decision-making data they need by sequencing the exome. WES can identify genetic variants responsible for:

  • Mendelian diseases such as Huntington’s disease
  • Somatic variants linked to various cancers
  • Underlying genetic components for complex diseases, such as Alzheimer’s, autism, and major chronic diseases of cardiovascular systems and diabetes
  • Influencing an individual’s response to a specific pharmacological regimen

WES provides the right balance of insights and cost

  • WGS takes longer and is often cost-prohibitive while the data needed is usually in the exons
  • Sanger sequencing and microarrays are not effective for large target regions
  • Targeted pre-defined panels may not contain all of the data needed for the project

Otogenetics Leverages State of the Art Techniques to Ensure WES Quality

  • Next Generation Sequencing (NGS) Service on Illumina HiSeq
  • Sample tracking via LIMS for customers to view projects in real-time
  • Multiple QC steps to ensure quality of your service