Whole Exome Sequencing (WES)
What Is Whole Exome Sequencing (WES)?
The human genome spans roughly 3 billion base pairs, yet only about 1-2% of that sequence—the exome—actually encodes proteins. This exonic portion comprises around 180,000 discrete regions across ~20,000 genes and harbors an estimated 85% of disease-causing mutations. Whole Exome Sequencing (WES) is a targeted sequencing technique that focuses only on this exome region. At AUGenomics, our Whole Exome Sequencing services deliver an efficient, high-yield approach to uncovering clinically and biologically relevant variants while reducing costs, data volume, and analysis time compared to whole genome sequencing.
Whole Exome Sequencing enriches for exons using capture technology to select for exome regions of the genome. Biotinylated oligonucleotide “baits” designed against all known human exons are mixed with this library, where they hybridize specifically to target fragments. Streptavidin-coated magnetic beads then capture the biotinylated DNA–probe complexes, allowing non-targeted DNA to be washed away before sequencing. This workflow can boost on-target coverage by up to 100-fold relative to shotgun sequencing of the whole genome. The resulting high-quality reads can be aligned to a reference genome, where bioinformatics pipelines call and annotate single-nucleotide variants, small insertions/deletions, and other coding-region alterations for research insights or clinical reporting.
Advantages of WES
01
Protein-Coding Focus: WES targets exons — the ~1–2% of the genome that codes for proteins — where the majority of known disease-associated variants are found. This focus allows researchers to efficiently prioritize regions with high clinical relevance.
02
Cost-Effective Depth: By concentrating sequencing efforts on a smaller portion of the genome, WES enables deeper coverage at a lower cost, improving sensitivity for detecting low-frequency, heterozygous, or mosaic variants in coding regions.
03
Established Clinical Relevance: With decades of literature and databases focused on exonic variants, WES results are highly interpretable and well-supported, making it an ideal choice for translational and diagnostic research.
04
Efficient Data Management: The smaller data footprint of WES simplifies storage, downstream analysis, and interpretation compared to WGS, especially in studies involving large cohorts or longitudinal sampling.
WES is a widely adopted tool in genomics research and diagnostics, including:
-
Identifying genetic mutations linked to rare or undiagnosed diseases
-
Cancer gene panel exploration and somatic mutation detection
-
Pharmacogenomics and personalized medicine studies
-
Population-scale variant screening
-
Functional annotation of coding variants
As one of the leading genome sequencing providers in California, AUGenomics supports clients in academia, biotech, and pharma with flexible, scalable WES solutions.
What is WES Used For?
Whole Exome Sequencing with AUGenomics
Sample Submission
-
Accepted Sample Types: Isolated cells, blood, saliva, buccal swabs, tissue, FFPE blocks, or extracted genomic DNA
-
Input Requirement: ≥100 ng of DNA (≥20 ng for low-input workflows)
-
Sequencing Recommendations:
-
Standard Exome: ~100x mean coverage
-
Low-Pass Exome: ~30–50x for broader population studies
-
Tumor/Normal Pair: 200x; Duplicate samples for somatic mutation comparison
-
-
Sequencing Read Length: 2x150 bp
Please refer to our Shipping Guidelines for project-specific guidance.
Turnaround Time
Our typical turnaround time for WES is 10-14 business days from sample receipt, depending on coverage and project complexity. Expedited options are available for urgent timelines.
Frequently Asked Questions (FAQs)
Q: Why choose WES instead of WGS?
A: WES provides a focused and cost-effective approach to identifying mutations in protein-coding regions, which is ideal for many clinical, diagnostic, and research applications. WGS is better suited for projects requiring data from non-coding regions.
Q: Can I use WES for FFPE samples?
A: Yes, we have optimized protocols for FFPE-derived DNA, including repair and enrichment steps to improve coverage and data quality.
Q: Do you offer custom capture panels for WES?
A: Absolutely. AUGenomics offers customizable exome capture to include specific genes or regions relevant to your research.
Q: Can I detect copy-number or structural variants?
A: We can infer exon-level CNVs from read depth, but WGS remains the gold standard for genome-wide structural variant detection.
Got more questions? Contact our team and get a free consultation anytime. info@augenomics.com
Glossary of Terms
-
WES: Whole Exome Sequencing
-
Coverage: Average depth at which base pairs are sequenced
-
Somatic Mutation: A genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell
-
FFPE: Formalin-Fixed, Paraffin-Embedded (sample preservation method)
