Document Type

Article

Date of this Version

4-14-2009

Abstract

Since the completion of the Human Genome Project, research focusing on the consequence of known human genetic code has advanced by leaps and bounds. The development of personalized medicine, a field focused on enumerating the effects of individual genetic variations, termed SNPs, has become a reality for those researching the molecular basis of disease. With clinical correlates between genotype and prognosis becoming ever more common, the utility of personal genetic screening has become impossible to ignore. In this report, we present PennBio: a whole-genome sequencing company utilizing a novel single-molecule, real time sequencing-by-synthesis technology. Using unique zero-mode waveguides, which have revolutionized single-molecule detection, individual enzymes polymerizing novel phospholinked fluorescence labeled nucleotides can be observed as they sequence genomic template DNA. Modern optical techniques record these fragmented sequences, which are then analyzed by highly efficient alignment algorithms. A personal genomic code will ultimately allow consumers to be aware of their genetic predispositions as the medical community continues to discover them.

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Date Posted: 22 January 2010