Exome sequencing: comprehensive coding variant discovery for rare disease diagnosis
20,000+
5,000+
200+
10,000+
Exomics sequences the protein-coding exome (~1.5% of genome, 30 Mb, ~180,000 exons). Each person harbors ~20,000 coding variants. Exome sequencing identifies disease-causing mutations in Mendelian disorders with 25-50% diagnostic yield. Lower cost than whole genome sequencing.
Machine learning algorithms for automated pattern recognition and biomarker discovery
Multi-omics integration for comprehensive biological understanding
Validated biomarkers and therapeutic targets for precision medicine applications