THE SYNTHSEQ APPROACH TO PERSONAL GENOTYPING

Inspired by the Archon X Prize for Genomics, our research project involves implementing a novel strategy for sequencing the human genome. This prize worth $10 million will be awarded to the first company to sequence 100 human genomes with 99.999% accuracy in less than 10 days for under $10,000 each. However, the possibility of winning the X Prize is secondary to the prospect of revolutionizing medical diagnostics. Currently, the genomic state of‐the‐art involves identifying SNPs (single nucleotide polymorphisms) that are correlated to certain diseases. Compared to such existing diagnostics, the genome‐wide, sequence‐based biomarkers that will be made possible by fast and affordable human genome sequencing are staggering. After six months of thorough investigation and development, we are pleased to present SynthSeq, a cutting‐edge, whole‐genome sequencing venture based on the novel sequencing‐bysynthesis technology. In contrast to high‐priced competitors, our inexpensive and comparatively error‐free whole genome sequencing solution will prove to be an invaluable diagnostic resource, and it will only become more valuable as advances are made in the field of molecular diagnostics. At our intended retail price of $5,000, series A investors can expect a worst‐case MIRR of 22%, and the ultimate NPV should be no less than $700 thousand. We are confident that our innovative SynthSeq technology will deliver high‐fidelity, low‐cost whole genome sequencing to as many as 3,000 customers per year as currently envisioned, with the potential for scale‐up to millions. This working paper is available at ScholarlyCommons: http://repository.upenn.edu/cbe_sdr/20

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