Exome Sequencing

To request a quotation for your exome sequencing project, please submit the form below. 

 

Discover novel mutations with next generation sequencing


 

GENEWIZ Project Management is composed of Ph.D. scientists who can help you optimize your project design and provide consultation to answer any questions. For any form questions on the left that you would like to discuss, please simply indicate "request consultation" in the answer line. Project Managers can be contacted directly at PM@genewiz.com.

For more information about exome sequencing, please visit the GENEWIZ Exome Sequencing web page.

Frequently Asked Questions (FAQ)

What is the exome?

The exome is defined here as all coding regions (exons) in the whole human genome.

What is exome sequencing?

Exome sequencing is the targeted enrichment and subsequent sequencing of the whole exome. Exome sequencing is potentially the most powerful tool available to the research community for the identification of genetic variations associated with a phenotype, such as a disease.

What is the difference between Ion AmpliSeq™ and Agilent SureSelect Exome Enrichment?

Ion AmpliSeq™ Exome Enrichment uses amplicon sequencing technology to target all exons on the Ion Proton™ sequencing platform. This is ideal for smaller projects (<10 samples) that need a fast turnaround time (7-20 business days), and that don't require very high depth of coverage (<50x).

Agilent SureSelect Exome Enrichment uses targeted probe-based capture to target all exons, and is sequenced using the Illumina HiSeq. This is ideal for larger projects with higher sample numbers, and requires a longer turnaround time.

What is the advantage of exome sequencing compared to whole genome sequencing?

Whole genome sequencing requires an extremely high amount of sequencing throughput to generate even a moderate depth of coverage. The data generated, while comprehensive, will not allow detection of mutations with as much sensitivity as a targeted approach. Paired with current sequencing technologies, exome sequencing is the most cost-effective and efficient solution.

A large portion of relevant mutations occur in the exome. In fact, the exome contains as many as 85% of disease-related mutations. Covering less than 2% of the whole genome, exome sequencing requires only 1/50th of the sequencing throughput to generate the same depth of coverage.

The lower sequencing throughput required by exome sequencing provides flexible experimental options:

  1. Maintain the same depth of coverage and multiplex more samples into the same lane, significantly decreasing total project cost;

  2. Increase the depth of coverage to facilitate the detection of rare, low-frequency mutations;

  3. Any combination of 1 and 2.

Why choose GENEWIZ for exome sequencing projects?

GENEWIZ has proven our steadfast commitment to superior service throughout the years, becoming established as a global leader in DNA sequencing and genomics. Further, we have extensive experience and expertise in next generation sequencing techniques, including exome sequencing.

For exome sequencing, we offer two options that we believe are optimized for different project needs: Ion AmpliSeq and Agilent SureSelect. An expert Project Manager can help you determine which option is optimized for your project.