Target Enrichment

Enriching target regions of interest for next-generation sequencing

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 or regions 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) and all major variant classes, in 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 short oligonucleotide primers and PCR amplification while hybrid-based target enrichment uses probes that hybridize specifically with targeted regions of interest in solution or on a solid surface.

An innovative new technology from Roche, based on primer extension, provides the superior performance of hybridization-based target enrichment with the ease and workflow speed of an amplicon-like workflow.

Roche Sequencing Solutions offers both hybridization-based and primer extension target enrichment (PETE) solutions that are part of an integrated workflow, which incorporates both high-quality probes or primers, as well as the streamlined KAPA Library Prep Kits. Both workflows enable focusing sequencing resources for targeted resequencing applications in human genetic disease and cancer research.


Primer Extension-Based Target Enrichment

Elevate your efficiency to a higher level with KAPA HyperPETE catalog and custom panels for DNA and RNA workflows. KAPA HyperPETE panels deliver the high performance of a hybrid-capture based workflow with the speed and ease of an amplicon-like workflow. Based on Roche’s renowned design and content expertise, the panels have been specifically optimized for small design sizes and validated to detect all major mutation classes.

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Hybridization-Based Target Enrichment

Explore the KAPA target enrichment portfolio. KAPA HyperExome Probes cover the CCDS, RefSeq, Ensembl, GENCODE and ClinVar genomic databases in an efficient ~43 Mb capture target size. Our custom products: KAPA HyperChoice Probes enable users to design custom human probes with the HyperDesign Tool, while KAPA HyperExplore Probes are for less well-known or complex custom designs pushed beyond normal boundaries.

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Target Enrichment Software

Roche offers several software solutions for target enrichment workflows. Use the HyperDesign tool, our free online tool to create custom designs for human and nonhuman applications. Roche also offers NAVIFY Mutation Caller, a new secondary analysis solution for variant calling validated for Roche NGS reagents.

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