Background

The majority of large scale genomic projects conducted are for the purposes of association studies — the comparison of genetic elements of a control population to those of a case population.

Sequencing the entire genome of thousands of patients and controls provides the ultimate tool for identifying variation among genetic elements. This variation may be associated with disease; it may also confer a pharmacogenomic response, or identify a genetic element that serves a protective function.

By enabling true direct DNA measurement, Helicos has dramatically reduced the cost of sequencing (to a per base cost about 1000-fold less than Sanger sequencing) While this is huge improvement, we expect that researchers will want to sequence a significant number of entire human genomes in order to adequately fuel association studies. The technology will routinely achieve this throughput in a few years. In the mean time, we are developing a simplified, highly multiplexed candidate region capture method to facilitate large-scale studies of complex genetic traits.

We are currently engaged in Early Access Collaborations for the Candidate Region Sequencing application with thought leaders who have obtained candidate regions via whole genome SNP association studies, candidate gene region SNP association studies, selected candidate regions from pathway-specific genes and other methods.

Application

Helicos is developing an approach to candidate region resequencing that is uniquely amenable to True Single Molecule Sequencing (tSMS)™ technology, and reduces the amount of reactions per tube compared to PCR by two to three orders of magnitude. This not only eases the sample handling burden, but will also allow researchers to quantify gene regions of interest utilizing an amplification-free approach. This would elucidate copy number variations (CNV’s) related to the gene, and in the same assay determine the sequence.