Uses of whole exome sequencing
WES is a practical method for mapping variants that are rare in the population, to elucidate complex disorders . It is also a feasible option for population genetics and discovery science, or data mining . WES is particularly useful in oncology
research and is currently used for cancer diagnostics . Information gained from WES can provide insight into prognoses and personalized treatment options . WES is most often carried out with hybridization probes rather than amplicons.
Benefits of whole exome sequencing
- Achieve deep and uniform coverage even across protein-coding regions
- Integrate with common sequencing platforms
- More manageable data output (5 GB) for genotyping applications than whole genome sequencing (90 GB)
- Lower cost and faster analysis than whole genome sequencing
Targeting coding regions
Exome sequencing is invaluable for sequencing only the coding regions of the human genome. With exons representing only about 1% of the genome, it is critical to have an effective method of separating these regions from non-coding DNA to focus on potentially
important mutations implicated in disease. The captured material must also be suitable for sequencing to a sufficient depth of coverage for reliable detection of variant alleles.