Exome Sequencing

Exome sequencing is a targeted sequencing approach that interrogates only the disease-causing exonic regions of the genome. While whole genome sequencing (WGS) provides complete sequencing of a genome, data analysis constraints and the high cost of WGS have led to the development of more cost-effective whole exome sequencing solutions. Sequencing of exomes enables researchers to identify functional variations that are associated with a wide range of disorders and diseases, by using enrichment strategies that target all coding regions of a genome, regulatory and 3’ untranslated regions, and other functionally annotated regions of interest, such as miRNA genes and various noncoding RNAs. Thermo Fisher Scientific enables flexible, simple, and affordable exome sequencing on the Ion GeneStudio S5 Plus or Ion GeneStudio S5 Prime System.