Helicos single molecule sequencing: unique capabilities and importance for molecular diagnostics

Recent studies identified the attributes of the Helicos Single Molecule Sequencing technology that provide unique features for molecular diagnostic application including combining the simplicity of sample preparation with sequencing, the scalability of the workflow and the quantitative power of the sequencing. Initially, Helicos is developing a molecular diagnostic test that will identify gene mutations indicative of a woman's increased risk of developing hereditary breast or ovarian cancer. We are also investigating longer-term studies to examine the quantitative capabilities of our core technology in order to develop molecular diagnostic tests based on the detection and quantification of foreign DNA/RNA circulating in the bloodstream, such as a non-invasive prenatal diagnostic test.The work presented represents the collective, dedicated contributions of numerous Helicos scientists and collaborators.