Whole Exome
Sequencing (WES)
Focused, high-depth analysis of the protein-coding genome to accelerate variant discovery.
Whole Exome Sequencing (WES) selectively sequences these coding regions, enabling researchers and clinicians to identify clinically significant genetic variants with high accuracy. By focusing on the most biologically relevant portion of the genome, WES offers a cost-effective, high-depth, and efficient solution for disease research, precision medicine, rare disease diagnosis, and clinical genomics.
What is Whole Exome Sequencing?
The exome consists of all the protein-coding regions (called exons) within the human genome. Although these regions represent only about 1–2% of the genome, they contain most known genetic variants associated with inherited disorders and many cancers.
Because the vast majority of known disease-causing variants occur within coding sequence, this targeted approach delivers highly relevant data at greater depth, lower cost, and faster turnaround than sequencing the full genome.
- Higher effective coverage on coding regions supports more confident variant calls.
- Smaller, more manageable data volumes simplify storage, transfer, and interpretation.
- Sequencing effort is concentrated where most known Mendelian disease variants occur.
- Faster project turnaround for time-sensitive research and diagnostic questions.
- Cost-efficient scaling across large sample cohorts without sacrificing coding-region resolution.
Applications Across Research & Clinical Domains
Coding-region resolution supports discovery and diagnostic goals across a wide range of genomics applications.
Rare Disease Research
Pinpoint causal variants in unsolved inherited conditions by concentrating sequencing depth on the coding regions where most pathogenic mutations arise.
Cancer Genomics
Profile somatic and germline coding mutations that drive tumor development, supporting biomarker discovery and therapeutic target identification.
Precision Medicine
Build patient-specific coding variant profiles that inform personalized treatment strategies and long-term risk stratification.
Clinical Research
Generate exome-wide variant data to support translational studies, cohort screening, and hypothesis-driven investigations.
Population Genetics
Compare coding-region variation across populations to study inheritance patterns, ancestry, and disease prevalence at scale.
Gene Discovery
Identify novel candidate genes and functional variants underlying complex traits and previously uncharacterized phenotypes.
Whole-Exome Sequencing Best Practices
Sample Collection
Genomic material is collected under standardized protocols to preserve DNA integrity from the outset.
DNA Extraction
High-quality genomic DNA is isolated and purified to meet strict input and purity thresholds.
Library Preparation
Fragmented DNA is end-repaired, adapter-ligated, and amplified into sequencing-ready libraries.
Exome Capture
Targeted probes hybridize to and enrich the protein-coding exome from the whole-genome library.
Next-Generation Sequencing
Captured libraries are sequenced at high depth on modern short-read sequencing platforms.
Bioinformatics Analysis
Raw reads are aligned, quality-filtered, and processed through validated variant-calling pipelines.
Variant Interpretation
Called variants are annotated, filtered, and prioritized against clinical and population reference databases.
Final Report
Findings are compiled into a clear, structured report ready for research or clinical review.
Features & Benefits
A dependable exome sequencing service built for accuracy, speed, and flexibility.
High Coverage
Deep, uniform coverage across coding regions supports confident calling of both common and rare variants.
Accurate Variant Detection
Rigorous alignment and calling pipelines are tuned to minimize both false positives and false negatives.
Fast Turnaround Time
Streamlined laboratory and analysis pipelines deliver results promptly without compromising data quality.
Advanced Bioinformatics
Configurable analysis pipelines scale smoothly from single samples to large cohort studies.
Quality Control
Multi-stage QC checkpoints validate sample integrity, library quality, and sequencing metrics throughout.
Flexible Project Support
Custom capture panels, coverage targets, and analysis tiers are tailored to your specific study design.
What You Receive
Complete, well-organized deliverables designed for downstream research or clinical use.
Raw FASTQ Files
Unprocessed sequencing reads provided for full pipeline transparency and reanalysis flexibility.
BAM Files
Aligned, sorted read files ready for downstream variant calling or custom workflows.
VCF Files
Standardized variant call files listing SNPs, indels, and other coding-region variants.
Variant Annotation
Functional and clinical context layered onto each variant, including gene, effect, and frequency data.
QC Reports
Detailed metrics on coverage, depth, mapping quality, and sample concordance.
Optional Customized Analysis
Additional filtering, pathway analysis, or comparative study design available on request.
Why Choose Our Laboratory
A trusted partner for exome sequencing projects of every scale.
Experienced Genomics Team
Scientists and bioinformaticians with deep expertise across research and clinical exome projects.
Modern Sequencing Platforms
High-throughput instrumentation validated for accuracy, depth, and reproducibility.
Robust Quality Standards
Standardized protocols and multi-stage checkpoints safeguard data integrity at every step.
Secure Data Handling
Confidential handling of sample and sequencing data across storage, transfer, and delivery.
Scalable Research Solutions
Project designs that flex from single-sample studies to large multi-cohort programs.
Reliable Technical Support
Responsive scientific guidance available throughout study design, execution, and reporting.
Life science innovators
come to CNC Path Lab
Ready to accelerate your clinical program? Our experts are here to help you design and execute the perfect laboratory strategy. Are you ready?