Whole Exome Sequencing Services

Psomagen offers a way for variant discovery using whole exome sequencing services with Next-Generation sequencing platforms on a research level for most eukaryotic species that has coding region known as exon.

Psomagen Inc. can provide raw data, basic analysis and/or customized analysis depending on the requirements of the research project.

What Is Whole Exome Sequencing?

using tweezers to pick part of genetic linkage

Most eukaryotic species have exons, known as the exome, which is the protein-coding region of the gene.

Whole exome sequencing is a targeted gene sequencing approach that makes it possible to identify variations in the protein-coding part of a selected gene since only about 2% of the whole genome is made up of exomes. This can be especially valuable because most known genetic variants actually occur in exons. With whole-exome sequencing, the targeted DNA sequence of a known organism is mapped out using a reference genome, and specific genetic mutations and disease-causing variants are identified.

Psomagen Inc. uses only the most advanced whole-exome sequencing research methods available, including next-generation sequencing platforms. This technology has completely revolutionized targeted DNA sequencing, making it possible for researchers to process and decode exomes in as little time as possible, sometimes in just 24-48 hours. Our experts perform clinical exome testing that meets all Clinical Laboratory Improvement Amendments (CLIA) requirements.

Benefits of Whole Exome Sequencing

Clinical whole-exome sequencing can be extremely cost-effective, while other methods of DNA sequencing can be more time- and cost-consuming. Whole-exome sequencing takes less time to complete, as it targets specific nucleotides found in the exome, and higher coverage can be obtained at a fraction of the cost compared to Whole Genome Sequencing.

Whole-Exome Sequencing (WES) vs Whole-Genome Sequencing (WGS)

While WGS is the more popular option, both WGS and WES have unique advantages. When deciding which sequencing option to use, it’s important to understand the difference between both.

WES focuses on the express regions of the genome and uses enrichment strategies that prove to help target specific areas. Since WES only worked with expressed areas of the genome and targeted sequencing and not the whole genome, it is more cost-effective than WGS. With whole-exome sequencing or targeted sequencing, you get deeper coverage and more information — up to 5,000 times compared to whole-genome sequencing. Clinical whole-exome sequencing is a routine option for diagnostics tests to help provide deeper insights into your personal health.

WGS focuses on the whole genome, specifically the exons and introns( the expressed and intervening sequences). Where WES looks at specific areas of interest, WGS checks the whole genome for sequence alignment. And, where WGS profiles the whole genome, it is usually more expensive than WES.

Workflow

Psomagen Inc. offers optimized, wide-ranging enrichment methods, sequencing platforms, and sequencing coverage available. Researchers can improve processing, speed up workflow, and deliver comprehensive capture solutions for all needs.

Enrichment methods

  • Agilent SureSelect Exome Capture

Sequencing platforms

  • NovaSeq6000 (Illumina)
  • HiSeq2500/4000 (Illumina)

Sequencing Coverage

  • Minimum of 50X with no maximum

Data Analysis

  • Variant Calling & Analysis
  • Annotation
  • Comparative Analysis (Cancer, Family, Population, etc.)

Whole-Exome Sequencing Services

Psomagen provides targeted exome and DNA sequencing that digs deep into the exome and identifies low-frequency variants associated with any particular disease. Our next-generation exome sequencing service targets specific genes to create manageable data for easier analysis. The data gathered from clinical exome sequencing provides more in-depth insights about your health, which can lead to better treatment options for your needs.

Inquire About Our Exome and Targeted Genome Services