Next-generation sequencing (NGS), with its ability to process hundreds of millions of DNA templates in parallel, has increased sequencing throughput and diminished sequencing costs tremendously1. However, whole genome sequencing is still expensive and does not provide the precision and depth of information required to decipher the roles of individual genes in complex diseases or afford the ability to investigate rare and low-frequency genetic variants. A more cost-effective way is to focus on specific regions of interest using target enrichment strategies. Target enrichment allows focusing of sequencing resources, which leads to reduced cost and simplified analysis2.
Several strategies are employed for enriching for specific genomic regions of interest before sequencing. The methods used predominantly are amplicon-based enrichment using molecular inversion probes (MIP) and hybrid capture enrichment, using probes that hybridize specifically with targeted regions of interest in solution or on a solid surface.
Roche Sequencing offers target enrichment workflows and high-quality kits for either of these methods. These workflows enable focusing sequencing resources for targeted resequencing applications in human genetic disease and cancer research.