Exome Sequencing by Next-Generation (SOLiD®) Sequencing

Targeted resequencing is the comparative analysis of selected regions in a genome to identify genetic variants when compared to a reference. Increasingly targeted resequencing experiments are used in basic and clinical research as scientists look for causative variants for rare and complex diseases within populations.

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Figure 1. In-solution hybridization method for exome capture enables multiplexing prior to capture.

The accuracy and throughput of the 5500xl Genetic Analyzer make it uniquely suited to targeted resequencing.

• Pay-per-lane Sequencing—two fully configurable FlowChips, each with 6 independent lanes enable you to run one, a few, or all lanes and pay for reagents only for active lanes
• Accuracy—ultra-deep sequencing capability combined with superior accuracy using Exact Call Chemistry (ECC) enables accurate detection of variants present in a sample with a frequency as low as 1%
• Multiplexing—barcoding allows you to multiplex up to 96 samples per lane, or 1,152 samples per run, making it easier for you to dial in the level you need
• Coverage—ultra–high-throughput translates to increased coverage per sample for confident variant detection in pooled or heterogenous samples
• Flexibility—libraries can be generated from a variety of enrichment methods including PCR, array-based hybridization, and in-solution hybridization