Target enrichment is a cost-effective and efficient method for researchers to capture specific regions of interest after library preparation for NGS and has many advantages over whole genome sequencing (WGS).
Target enrichment enables focused sequencing resources, which leads to reduced cost and simplified analysis.1 The technique increases the probability of sequencing DNA fragments of the targeted regions compared to all other genes in the genome. As a result, the rest of the genome can be disregarded, simplifying downstream bioinformatics analysis. It also provides greater sequencing depth, which helps prevent false interpretations of sequencing data. Furthermore, it increases the ability of NGS to detect variants from limited sample amounts and increases sensitivity. Because of this sequencing depth and sensitivity, target enrichment is valuable in variant calling in cancer research, identifying disease-associated mutations, single nucleotide variants (SNPs), single gene disorders and in gene expression studies.
Several strategies are employed for sequence capture and enriching specific genomic regions of interest before sequencing. The most commonly used methods are hybrid capture enrichment and amplicon-based enrichment. Amplicon-based enrichment uses molecular inversion probes (MIP) while hybrid-based target enrichment uses probes that hybridize specifically with targeted regions of interest in solution or on a solid surface.
Roche Sequencing Solutions offers hybridization-based target enrichment solutions that are a part of an integrated workflow, which incorporates both high-quality probes as well as the streamlined KAPA Library Prep Kits. This workflow enables focusing sequencing resources for targeted resequencing applications in human genetic disease and cancer research.