Targeted resequencing isolates genomic regions of interest in a sample library, focusing on targets and mutations. Isolating genomic regions of interest through targeted resequencing enables systematic detection of common and rare variants for high-throughput sequencing at a lower cost per sample. Illumina offers several targeted resequencing kits to support a variety of study designs.

TruSeq Exome Enrichment Kit
Many potential disease-causing variants lie within exonic, or coding, regions of the genome. Targeted exome sequencing allows researchers to take a closer look at those regions – which comprise 1–2% of the genome - to discover causal variants for a range of complex human diseases.

The TruSeq Exome Enrichment Kit supports cost-effective, scalable exome sequencing studies by offering pre-enrichment sample pooling, the most comprehensive coverage, and highest uniformity. TruSeq Exome Enrichment is integrated with TruSeq DNA Sample Prep Kits for a fully-optimized and gel-free workflow. Master-mixed reagents, plate-based processing for up to 96 samples, and volumes optimized for liquid handling robots, make the process automation-friendly for even higher throughput.

TruSeq Custom Enrichment Kit
For targeting specific genomic content, such as variant validation, examining specific genes in pathways, or as a follow-up to GWAS, the TruSeq Custom Enrichment workflow provides the most cost-effective, scalable customized targeted resequencing solution.

Custom assay design begins with DesignStudio, a personalized and easy to use online design tool for creating a custom oligo pool to target nearly any human genomic content of interest. TruSeq Custom Enrichment is integrated with TruSeq DNA Sample Prep Kits for a fully optimized and gel-free workflow. The TruSeq Custom Enrichment Kit supports pooling of up to 12 samples per enrichment reaction, dramatically reducing hands-on time and increasing throughput.

TruSeq Custom Amplicon

TruSeq Custom Amplicon (TSCA) allows researchers to sequence hundreds of genomic regions covering up to 96 kb of cumulative sequence. This highly targeted approach enables a wide range of applications for discovering, validating, and screening genetic variants in a rapid and efficient manner. Requiring just 250 ng of starting gDNA, TSCA is amenable to a wide range of samples, even those available in limited quantity. With the ability to generate up to 384 amplicons per sample and integrated indices to support up to 96 samples per MiSeq run, TSCA provides an unprecedented level of sample multiplexing. Entire projects can now be accomplished in only days, leveraging the long paired-end-read capability, speed, and high data quality of the MiSeq system.

TruSeq Amplicon Cancer Panel

The TruSeq Amplicon - Cancer Panel (TSACP) is a highly multiplexed targeted resequencing assay for detecting somatic mutations. TSACP enables highly sensitive mutation detection within important cancer-related genes, including BRAF, KRAS, and EGFR. Mutations in these genes are linked to many cancers, including melanoma, colorectal, ovarian, and lung cancer. The unique ability of this assay to screen precious FFPE samples for these important variants will unlock a wealth of genomic information for many tumor type. Leveraging the long paired-end read capability, speed, and high data quality of the MiSeq system, entire projects can now be accomplished in days instead of months.