Omics Research
Genomics

Whole-Exome Sequencing

Understand patient health histories and diagnoses better and test at-risk family members.

Let’s Talk About WES

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?

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Maximize Your Budget

Sequence ~2% of the genome and study ~85% of known genetic variants.

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Find Rare Variants

Discover rare transcripts more easily with the greater depth and coverage afforded by sequencing far less DNA than WGS. 

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Process Clinical Samples

Rely on Psomagen’s CLIA-validated protocols for WES at 50x minimum coverage.

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Offer Precision Medicine

Introduce new ways to prevent, diagnose, and treat disease on a personalized level.

Tools for WES

Whole-Exome Sequencing Panels
  • Best for:
    Disease and biomarker discovery applications; mapping specific disease-causing mutations against a reference genome

  • Benefits:
    Provides a large amount of information about the genome while restricting the analyses specifically to the regions that code for proteins

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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

  • Benefits
    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

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Ordering & Data Delivery

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PSO Resourceful!

Want to make your whole-exome sequencing project more efficient and cost-effective?

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Other Targeted Sequencing Services

Analyze specific sequences with greater depth — utilizing hybrid capture probe panels — and a variety of other targeted sequencing options.

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Targeted Sequencing

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Bioinformatics

The best techniques for analyzing masses of biological data. Draw meaningful conclusions and uncover insights that help determine gene and protein evolution and function.

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