• APPLICATIONS
• SYSTEMS
• SERVICES
• SCIENCE
• SUPPORT
• COMPANY

Targeted resequencing isolates genomic regions of interest in a sample library for a focused genomic search.

Leveraging both superior data quality and high throughput, the Genome Analyzer is the system of choice for the most flexible and efficient targeted resequencing solution. Isolating genomic regions of interest through targeted resequencing of many samples enables systematic detection of common and rare variants for high-throughput sequencing at a lower cost per sample.

The Genome Analyzer offers a flexible and efficient solution for targeted resequencing applications including:

• Sequencing genes or regions in very large populations
• Following up on genomic regions of interest identified in genome-wide association studies
• Focusing on genes involved in certain pathways
• Identifying signatures associated with disease prevalence
• Discovering rare variants

Co-Marketing with Agilent SureSelect

A co-marketing agreement between Illumina and Agilent supports a new, scalable solution for researchers conducting targeted resequencing studies. The Agilent SureSelect Target Enrichment System, optimized for Illumina's widely adopted next-generation sequencing platform, the Genome Analyzer, provides researchers with a method for efficiently resequencing specific regions of interest in the genome. This cost-effective approach significantly simplifies the lab process while providing even coverage and high alignment rates.

Developed and validated on the Genome Analyzer, the SureSelect system provides uniform coverage, high reproducibility, and little or no allele bias. Agilent's SureSelect Target Enrichment System significantly improves the cost- and process-efficiency of next-generation sequencing by targeting specific regions of genetic variance. More statistically relevant numbers of samples can be analyzed, increasing the power of a study and lowering overall reagent costs.

• The SureSelect Target Enrichment in-solution method has been optimized for use on the Illumina Genome Analyzer for both paired-end and single read sequencing and allows you to target up to 6.6 Mb of the genome, making follow-on GWAS studies simple and effective
• The Human All Exon Kit allows you to target 38 Mb of the human genome, targeting exons defined by the CCDs as well as miRNA and ncRNA
• Easily design customized SureSelect products to the genome of interest using eArray, Agilent's intuitive design tool

The Agilent SureSelect Target Enrichment System is easily performed with standard molecular biology equipment in a typical lab and does not require the purchase of any additional capital equipment.

Other Enrichment Technologies

There are other methods that are also compatible with Illumina sequencing for isolating genomic regions of interest prior to sequencing on the Genome Analyzer. Additional methods are listed below.

The RainDance Sequence Enrichment application generates picoliter volume PCR reactions at the unprecedented rate of 10 million discrete reactions per hour. The high-speed sample processing is further enhanced by the fact that the RainStorm technology utilizes a library of PCR primers, enabling the amplification of hundreds to thousands of genomic loci in a single tube. This avoids limitations of traditional multiplex hybridization and amplification technologies. The RainDance solution minimizes process-induced bias or error and requires only a few micrograms of genomic DNA. The Sequence Enrichment application includes the RDT 1000, consumables, and services. Its capabilities fit seamlessly into any workflow to dramatically improve process output and data quality. The solution is “open,” and easily integrates with all next-generation sequencing technologies. It enables previously unimaginable benefits:

• Flexibility to target both discrete loci as well as contiguous regions
• Enables the application of targeted sequencing for large cohort studies
• Significantly reduces study time and costs
• Reduces hands-on time via a simplified workflow

HybSelect is a microarray-based sequence capture strategy designed with a highly automated workflow on dedicated instruments. HybSelect features outstanding sequence coverage for statistically robust determination of biological variation including SNPs, point mutations, or indels. This performance further provides the basis for sample multiplexing using Illumina barcoding reagents, greatly enhancing the throughput per instrument and run. HybSelect is especially well-suited for customers who want to sequence clinically-relevant targets, such as disease-related genes.

HybSelect microarrays are rapidly designed and synthesized. After library preparation, the HybSelect procedure is fully automated on febit’s instruments. Automation improves reproducibility and throughput of the sequence capture while minimizing user hands-on time. HybSelect can either be done on febit’s instruments or at febit as a HybSelect service provider. HybSelect has the following benefits:

• Works with pooled barcoded libraries
• Deep sequence coverage
• Excellent SNP detection and proven absence of allelic bias
• Highly automated solution for sequence capture