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Solutions designed to efficiently target and enrich coding regions of the genome
Achieve breakthrough results in your NGS research with a complete whole exome sequencing solution. Our advanced target enrichment probe designs ensure that you capture the most comprehensive exome data from every sample, eliminating gaps and providing the uniform coverage needed to confidently call every variant. Move seamlessly from sample to insight with our integrated analysis pipelines, empowering you to spend less time on technical hurdles and more time making the discoveries that matter.
Whole exome sequencing (WES) targets the protein-coding portions of the human genome, collectively known as the exome. These regions constitute approximately 1% of the human genome1, but are estimated to contain approximately 85% of known disease-related variants, making WES an extremely powerful and cost-effective discovery tool.1,2 Compared to whole genome sequencing (WGS), WES is a focused and more efficient approach. By concentrating on the most relevant portion of the genome, WES allows researchers to use sequencing and analysis resources more efficiently, increasing sample throughput and reducing the substantial data storage and computational burden associated with WGS.
During NGS library preparation for WES, genomic DNA is fragmented and ligated to sequencing adapters, and targeted regions are then captured; the most common method uses a hybridization-based method with oligonucleotide probes designed to bind to exonic sequences.
Roche offers a line of high-performing exome sequencing solutions featuring advanced probe designs that ensure high capture efficiency and superior coverage uniformity across all targeted exons. In addition, Roche has made available secondary analysis pipelines on third-party bioinformatics platforms to enable scalable whole exome sequencing analysis. These solutions enable the preparation of high-quality DNA libraries, which are critical for minimizing regional dropouts, confidently calling variants, and ultimately obtaining high-quality whole exome sequencing analysis for genetic disease research.
Featured products
RUO
For Research Use Only. Not for use in diagnostic procedures.
KAPA HyperExome V2 Probes and Kits
The KAPA HyperExome V2 Probes are Roche's brand new Whole Exome Sequencing solution delivering superior content coverage.
IVD
For in vitro diagnostic use.
AVENIO Edge System
AVENIO Edge System is a fully automated IVD liquid handler for end-to-end library preparation, target enrichment, quantification, normalization, and pooling.
RUO
For Research Use Only. Not for use in diagnostic procedures.
KAPA EvoPlus Kits
KAPA EvoPlus Kits offer reliable, high-performance DNA library preparation with enhanced enzymatic fragmentation and a streamlined, fully automatable workflow.
Benefits of exome capture sequencing solutions from Roche
Streamlined workflow
Confidence in your sample prep leads to confidence in your discoveries
Successful whole-exome sequencing requires high-quality library prep prior to capture. Whether you're working with limited starting material or difficult sample types, Roche's KAPA NGS library preparation kits are designed for robust, reliable performance on their own or as part of target enrichment workflows. Our unique high-performance enzymes maximize library prep efficiency, reducing bias and ensuring you get the high-quality data needed for your next discovery.
- KAPA EvoPrep and KAPA EvoPlus Kits for DNA library prep
- KAPA RNA EvoPrep Kits for RNA library prep
- KAPA HyperExome V2 Probes
Automation-enabled
Automate your whole exome sequencing workflow
Move beyond the complexities and potential for error associated with manual sample preparation. In addition to our extensive support of KAPA library prep kits on common liquid handlers, you can now experience fully automated, walk-away target enrichment workflows with the AVENIO Edge System, Roche’s integrated automated sample prep liquid handler.
- Designed for maximum accessibility, with minimal setup and no need for prior NGS or automation expertise
- Streamlines the entire whole exome sequencing workflow by taking control of critical, error-prone steps
- Provides end-to-end sample prep—precise library quantification, accurate normalization calculations and dilutions, and equimolar pooling of libraries
This level of end-to-end automation ensures superior consistency from sample to sample, dramatically reduces hands-on time, and produces sequencer-ready libraries of the highest quality and reproducibility. Furthermore, the entire platform is backed by a dedicated Roche support team to ensure seamless implementation and ongoing success in your lab.
Integrated analysis
Accelerate your research with integrated analysis
Bridge the gap between raw sequencing data and meaningful biological insight with a powerful, end-to-end solution. Roche's high-performance KAPA custom and catalog panels—including KAPA HyperExome V2—now come with convenient and fully integrated secondary analysis capabilities for data analysis, powered by the DNAnexus platform. This collaboration eliminates the need for in-house bioinformatics infrastructure or deep coding expertise, providing researchers with direct access to a suite of sophisticated, pre-configured analysis pipelines.
- Reduce bioinformatics burden: Eliminate the need for in-house servers or coding expertise with pre-configured, push-button analysis pipelines.
- Answer complex questions: Run convenient analysis on germline, somatic, and longitudinal mutation analysis pipelines.
- Visualize your discoveries easily: Transform complex data into clear, interactive graphs and figures, ready for publication.
- Accelerate Your Research: Get from raw data to meaningful biological insight in a fraction of the time.
Automation-friendly DNA library preparation
Thinking of automating library preparation on an existing liquid handler? Roche provides NGS automation support with a menu of automated methods for KAPA library prep reagents on non-Roche liquid handling vendors.
Integrated secondary analysis capabilities with KAPA target enrichment workflows
KAPA custom and catalog panels—including KAPA HyperExome V2—now come with convenient and fully integrated secondary analysis capabilities for data analysis, powered by DNAnexus.
KAPA products are for Research Use Only. Not for use in diagnostics procedures.
The AVENIO Edge System is a Class 1 US IVD and a Class A CE IVDR and is intended for downstream diagnostic applications. For the EU, Roche is collaborating with Platomics to enable laboratories to help automate document generation on Platomics multi-stakeholder platform for workflows incorporating the AVENIO Edge System. Reagents and kits mentioned are for Research Use Only. They are not intended for diagnostic procedures. The AVENIO Edge System can be used for Research Use Only (RUO) workflows.
References
- Marian AJ. Sequencing your genome: what does it mean?. Methodist Debakey Cardiovasc J. 2014;10(1):3–6.
- Choi M et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing, Proc. Natl. Acad. Sci. U.S.A. 2009;106(45):19096-19101.