MICRO$EC: Cost Effective, Whole-Genome Sequencing

Abstract

While the feasibility of whole human genome sequencing was proven by the success of the Human Genome Project several years ago, the prevalence of personal genome sequencing in the medical industry is still elusive due to its unrealistic cost and time requirements. Microeqisastartupcompanywiththegoalofovercomingtheselimitationsbysequencingaminimumof12completehumangenomesperdayatanerrorratelessthantenpartsinmillionataprofitablemarketpriceoflessthanUSeq is a startup company with the goal of overcoming these limitations by sequencing a minimum of 12 complete human genomes per day at an error rate less than ten parts in million at a profitable market price of less than US1000 per genome. To overcome the technology bottlenecks hindering current biotech companies from achieving these target throughput, error rate, and market price goals, Microeqhasdevelopedaninnovativesequencingtechniquethatusesshortreadfragmentswithhighcoverageonamicrofluidicsplatform.Short,amplifiedDNAfragmentsaregeneratedfromaninputofcustomersaliva.6basepair(bp)sequencehybridizationisusedforsequencingeachoftheDNAfragmentsindividually.TheresultsarethesehydridizationreadsarethenassembledviadeBruijngraphtheoryandthegraphicalreconstructionsofeachfragmentssequencearethenassembledtoacompletegenomeviashotgunsequencingwithanexpectederrorratelessthan1in100,000bp.Uponthecompletionoffinancialanalysis,bothasmallscalebusinessmodelproducing72genomesperdayatUSeq has developed an innovative sequencing technique that uses shortread fragments with high coverage on a microfluidics platform. Short, amplified DNA fragments are generated from an input of customer saliva. 6 base pair(bp) sequence hybridization is used for sequencing each of the DNA fragments individually. The results are these hydridization reads are then assembled via de Bruijn graph theory and the graphical reconstructions of each fragment’s sequence are then assembled to a complete genome via shotgun sequencing with an expected error rate less than 1 in 100,000bp. Upon the completion of financial analysis, both a small-scale business model producing 72 genomes per day at US999 per genome, and a largescale business model producing 52.2 genomes per year at a market price of US299pergenomewerefoundtobeprofitable,yieldingMicro299 per genome were found to be profitable, yielding Microeq investors return margins of ~90% and 300% for the small and large scale models, respectively. With a market price Micro$eq offers personal genome sequencing at one-tenth of its nearest potential competitor’s cost. Additionally, its ability for bulk-sequencing allows it to profitably venture into the previously untapped Pharmaceutical Industry market sector, enabling the creation of large-scale genome databases which are the next step forward in the quest for truly personalized

    Similar works