Whole-Exome Sequencing (WES)

How it works

Whole-exome sequencing enriches exonic regions before sequencing and variant analysis. It is a focused approach to studying variation in protein-coding genes, with public databases and study-specific evidence used to annotate and prioritize findings.

Applications

• Investigate variants associated with Mendelian inheritance
• Identify genes potentially involved in complex diseases
• Prioritize variants using study groups and supporting evidence

Key features

• Concentrates sequencing resources on protein-coding regions
• Supports variant annotation using public databases
• Capture design and target coverage selected for the project

Workflow

1. 01

   Assess DNA quality and select the capture design

2. 02

   Enrich exonic regions and prepare sequencing libraries

3. 03

   Sequence libraries and assess target coverage

4. 04

   Call and annotate coding variants and prioritize findings

We tailor the experimental workflow and analysis to your samples and study objectives.