Single molecule DNA sequencing by synthesis

PHYS 666

M. Jarosz, mjarosz@helicosbio.com, Helicos Biosciences, One Kendall Square, Cambridge, MA 02139
We have developed a high throughput and highly accurate technology for true single molecule DNA sequencing . Demonstrated read lengths allow single gene targets to be sequenced with high accuracy (99.9+%) and high coverage (99+%). The process employs surface immobilized primers to capture unamplified genomic DNA templates by hybridization. Sequencing proceeds by cyclic addition of individual fluorescent labeled nucleotide analogs. Millions of templates are sequenced in parallel, using ?step and repeat? fluorescence imaging. The technology for sample generation, sequencing by synthesis, imaging and data analysis will be discussed. Error rates and sources, projections for large scale studies, and rare mutation detection will be included.