The targeted resequencing of the human exome provides a fast, cost-effective, and bioinformatically tractable method of generating sequence data for the discovery of genetic variation within this important region. The combination of NimbleGen Exome Sequence Capture with 454 GS FLX Titanium Sequencing in an optimized protocol streamlines the workflow, reduces the amount of sample DNA required, and leads to a more uniform coverage across the captured region.
The long sequencing reads allow the discovery of SNPs and more complex variations such as large insertions and deletions. With one array and two sequencing runs, samples can be analyzed to their full potential, enabling a better understanding of genomic variations, which is key to the study of human diseases. Additionally, NimbleGen Sequence Capture Custom Delivery arrays provide an effective method for resequencing candidate genes and other regions previously identified in genome-wide association studies.