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

That is why an integrated approach to sample preparation, for applications such as targeted sequencing, which encompasses all the steps required to convert a sample to a sequencing-ready library is beneficial in your research considering the precious nature of NGS samples. Therefore, we offer Roche Sample Prep Solutions, from sample collection to library quantification for different sample types and sequencing applications that are provencomplete and simple.

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, such as the HyperCap Workflow, and high-quality probes 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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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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HyperCap Workflow

Learn more about our streamlined and automation-friendly workflow solution that integrates SeqCap EZ (Exome and Custom), KAPA Dual-Indexed (96) Adapters and Universal Blocking Oligos (UBOs).

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Target Enrichment Software

Use our free online tool HyperDesign to create custom designs for human and nonhuman applications and learn more about our 3rd party solution for data analysis.

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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.