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Omics Research // Genomics

Whole-Exome Sequencing

An efficient, cost-effective way to identify rare genetic variations and improve diagnostic testing

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.

It is a preferred tool for understanding patient health histories and diagnoses, as well as testing at-risk family members.


Why Is Studying the Exome Important?

Most (about 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

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


Process Clinical Samples

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


Offer Precision Medicine

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

Technologies Used for Whole-Exome Sequencing

Whole-Exome Sequencing Panels

Best for

Disease and biomarker discovery applications; mapping specific disease-causing mutations against a reference genome


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

On-Going Promotions

We're always adding new deals — check in often for updated promotions!


Whole-Exome Sequencing Best Practices

Sample Preparation & DNA Extraction

DNA extraction from cells, tissue, FFPE, blood, and swab samples

Get your high-quality genomic DNA isolated from most sample types at Psomagen.

Sample Requirements

We offer a standard run of 1ug of genomic DNA and 200 ng as a low input

10ng is the minimum input amount for Exome library

Library Preparation & Hybrid Capture

  • Agilent SureSelect Human All Exon V7, V8
  • Agilent SureSelect XT-HS2 with V7, V8
  • Agilent SureSelect Clinical Research Exome V2
  • Agilent SureSelect Mouse
  • Twist Exome Capture

Sequencing Depth & Read Length

Instrumentation: Illumina NovaSeq 6000 or NovaSeq X Plus

  • 2 x 151 bp read length
  • Custom sequencing coverage

Bioinformatic Analysis

Basic analysis

  • Data quality control
  • Mapping (BWA-GATK pipelines)
  • Variant analysis (SNPs, InDels)

Advanced analysis

  • Somatic mutation variant
  • Mutational signature
  • Tumor purity
  • Tumor mutational burden (TMB)
  • Custom analysis

Data Delivery

All sequencing run data is delivered as demultiplexed .fastq files

When an entire flow cell or lane is purchased, raw data can be delivered as BCL files if requested at the time of purchase

We're Ready for Your Order!

Here's what to expect in your project's life cycle. If you have a question during sequencing, it's easy to get in touch!


Request a Consultation

Create an account through our client portal and get in touch with your local field team to start designing a project.

We’ll help drive your research forward with the right tools for your research needs.


Place an Order

After finalizing the scope of work, the official quote will be issued for signing. Then, your sales representative will send specific shipping instructions.

Once all the samples and necessary documents are ready, we can start your project. Need more analysis? Reach out to our bioinformatics experts to dig deeper.


QC and Data Delivery

All Psomagen sequencing projects come with a built-in QC step to ensure you get the information you need. An account manager will update you on your project's progress in a timely manner.

You can also see some project information and securely view all valid reports on the client portal site.

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

Why Our Clients Choose Psomagen


Superior Data Quality

Exceeds manufacturer benchmarks


Fast Turnaround

Starting at one week for sequencing projects


US-Based Processing

Sequencing and customer support in Rockville, MD


Ph.D. Level Support

Expert assistance every step of the way, with real-time project updates through our online system


Automated Workflows

Increase scalability and improve reproducibility


CLIA-Certified, CAP-Accredited Labs

Clinical research options available (inquire for more information)


Complete Sequencing Solutions

From extraction to data analysis, with many sample types accepted

WES in Action

Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients
Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
PSO Resourceful!

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