Whole Exome Sequencing (WES)
Whole exome sequencing targets protein-coding regions where many known disease-associated variants occur, providing a cost-effective alternative to whole genome sequencing for many research designs.
For fastest scoping, send: organism, number of samples, target depth, and whether this is germline, tumor-only, or tumor/normal exome design—plus whether you want data only or variant analysis.
Why Choose Exome Sequencing?
WES concentrates sequencing reads on coding regions, enabling strong coverage and variant sensitivity while reducing cost and data burden compared with whole genome sequencing.
Key Advantages
- Lower cost than WGS for many research designs
- Focused analysis of protein-coding genes
- Efficient storage and manageable data volumes
- High sensitivity for rare coding variants with appropriate depth
Best-Fit Use Cases
- Rare disease research and inherited variant studies
- Oncology research (tumor-only or tumor/normal designs)
- Population studies focused on coding variation
- Candidate gene follow-up after discovery screens
Workflow Options & Deliverables
MR DNA supports multiple capture kits and customizable depth targets. Choose sequencing-only outputs or add bioinformatics for variant calling and annotation.
Data Deliverables
- FASTQ files and QC summaries
- Optional alignments (BAM/CRAM)
- Coverage metrics across targets (scope-dependent)
Optional Bioinformatics
- Variant calling (SNP/indel) with filtering (scope-dependent)
- VCF outputs and annotated variant tables (when requested)
- Summary reporting aligned to study goals
Project Scoping Support
- Depth planning based on sample type and design
- Tumor-only vs tumor/normal strategy recommendations
- Deliverables tailored to your pipeline
Ready to start an exome project?
Contact us for a tailored quote and recommended depth targets.