Principle
WES enriches exonic regions using capture probes or a targeted strategy before sequencing and variant analysis. It focuses on protein-coding variation and supports annotation and candidate prioritization using relevant public databases.
Applications
- Investigate candidate coding variants associated with Mendelian inheritance
- Explore candidate genes in complex disease
- Filter variants using study groups and complementary evidence
Method features
- Focuses sequencing resources on coding regions
- Supports annotation using public databases
- Capture scope and achieved coverage are confirmed for each project
Workflow
- 01
Assess DNA quality and select a capture design
- 02
Capture exonic regions and prepare libraries
- 03
Sequence and assess target-region coverage
- 04
Detect, annotate and prioritize coding variants
This is a workflow overview. Experimental and analytical details depend on sample conditions and research objectives.