Focuses on coding regions of the genome.
Whole exome sequencing (WES) provides coverage of more than 95% of the exons, which harbor the majority of the genetic variants associated with human disease phenotypes.1 It offers researchers the ability to use sequencing and analysis resources more efficiently by focusing on the most relevant portion of the genome (the coding regions) and facilitates the discovery and validation of common and rare variants. Sequencing of the exome provides many of the benefits of whole-genome sequencing (WGS) with greatly reduced resources.
Why whole exome sequencing?
● Enables comprehensive coverage of exons to target medically relevant genomic regions, including known disease-associated sites and untranslated regions (UTRs)
● Increases variant discovery potential, including rare and low-frequency mutations using next generation sequencing (NGS) technology
● Eliminates the need to sequence the entire genome, offering a cost-effective alternative to WGS
How does WES work?
Genomic DNA is fragmented, and targeted regions are captured by hybridization using biotinylated oligonucleotide probes in solution. The captured target sequences are isolated using streptavidin beads, and after washing and elution steps, are used for subsequent amplification and sequencing.
Roche Sequencing Solutions offers an entire suite of products from sample QC, target enrichment to library quantification that enable the preparation of high-quality DNA libraries, critical for obtaining high-quality whole exome sequencing data.