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What is the Exome?
Exons are the sections of the genome that are transcribed into mRNA and translated into proteins. Altogether, the exons make up the exome — about 2% of the total genome.
Why Is Studying the Exome Important?
Most (or around 85%) of known genetic variants that contribute to disease occur in the exonic regions.
Through a gene sequencing approach targeting this relatively small percentage of the genome, scientists can learn about the majority of clinically relevant genetic variations that affect protein coding.
What Can You Do?
Maximize Your Budget
Sequence ~2% of the genome and study ~85% of known genetic variants.
Find Rare Variants
Discover rare transcripts more easily with the greater depth and coverage afforded by sequencing far less DNA than WGS.
Process Clinical Samples
Rely on Psomagen’s CLIA-validated protocols for WES at 50x minimum coverage.
Offer Precision Medicine
Introduce new ways to prevent, diagnose, and treat disease on a personalized level.
Tools for WES
Whole-Exome Sequencing Panels
Clinical Whole-Exome Sequencing
- Best for:
CLIA-certified, CAP-accredited assay validated to provide protein-coding gene sequence data for use in clinical management of patients
Quality management of the end-to-end process from patient sample to analysis; high-quality library preparation and hybrid capture enrichment; 50X mean depth of coverage; clinically-relevant annotated gene reports
Quotes From Our Clients
"We used Psomagen to conduct whole exome next-generation sequencing services using multiple tissues derived from various mouse strains. The service has been very effective and timely, and we have achieved high-quality and reproducible results. The QC steps are easy to follow and the price is reasonable. Overall the service is good value for money."
Fengyi Wan, Ph.D.
Johns Hopkins University
Request a Consultation or Quote
Get in touch with your local field team and start designing a project. We’ll help drive your research forward with the right tools for your investigative needs.
Create, Manage and Track Your Project
Keep an eye on all the various methods and platforms we’re using to ensure your starting material will produce the most in-depth information possible. It’s easy to get in touch with us if you have a question or concern. Then, reach out to our bioinformatics scientists to dig deeper into the results.
Get Your Data and Analysis Reports
Securely access your raw data and view detailed analyses specific to your scientific question all in one place. Then reach out to our bioinformatics scientists to dig deeper into the results.
Other Targeted Sequencing Services
Analyze specific sequences with greater depth — utilizing hybrid capture probe panels — and a variety of other targeted sequencing options.