Target Enrichment

Overview

Enriching target regions of interest for next-generation sequencing

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 tremendously.1 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 analysis.2

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 Solutions 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.

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Hybridization-Based Target Enrichment

Explore the SeqCap® target enrichment products, which use a solution-based capture method for target enrichment. Find the various SeqCap target enrichment solutions for analyzing the whole exome (SeqCap EZ) or specific disease-associated regions (SeqCap EZ MedExome), for investigating methylation changes (SeqCap Epi) or for studying transcriptomes (SeqCap RNA). Available in catalog and custom formats.

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Amplicon-Based Target Enrichment

Utilize the HEAT-Seq® target enrichment products, which use an advanced version of MIP technology and combine a fast and easy workflow with sensitive SNV detection. Find custom formats for targeted resequencing applications in human genetic diseases and cancer research.

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Reagents and Accessories for Target Enrichment

Find reagents and accessories such as adapters to aid in precapture ligation-mediated PCR (LM-PCR), capture beads needed to recover captured DNA samples, reagents needed for blocking repetitive regions in the genome, consumables needed to perform hybridization and hybridization-enhancing oligos.

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Target Enrichment Software

Use our free online tool NimbleDesign to design custom SeqCap EZ Choice or HEAT-Seq Choice Designs for human and nonhuman applications. Find SignalMap Software to visualize your design data. The software enables you to import and visualize your data and to link out to further analyze your gene of interest.

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References

1. Can Dijk et al. Trends in Genetics, 2014. Ten years of next generation sequencing technology.

2. Kozarewa et al. Curr Protoc Mol Biol., 2015. Overview of target enrichment strategies.