SBIR Phase I: Surveyor Endonuclease Adaptor-Ligated Libraries for Genomic Mutation Analysis

这个小企业创新研究（SBIR）第一阶段项目开发了一种新的方法，可以快速和具有成本效益的分析测试和已知的控制基因组之间的遗传变异。这种被称为SEAL的方法将允许研究人员构建仅包含这些变异的DNA文库。这将是一个技术上的突破，因为全基因组测序会产生大量代表测试基因组的冗余数据。与对照基因组相同的区域。使用目前的测序技术，这种冗余数据会带来高的生成和分析成本，而不会提供任何新的信息。这个项目将展示的方法？的可行性，通过开发强大的细菌基因组分析应用程序。将测试多阶段方法的每一步，以找到最佳条件。第二阶段的目标将是开发更复杂的人类基因组应用。这项研究的更广泛的影响是如何进行DNA测序和DNA变异的评估。受影响的研究领域包括：药物基因组学评估用于个性化医学诊断，特别是在癌症治疗中;更简单，数据密集度更低的方法来收集了解复杂疾病所需的遗传变异信息，如糖尿病和心血管疾病，以及发现耐药病原体的新抗生素的工具。商业价值将是基因组测序的成本和时间的显著降低，与适当治疗相关的生物标志物的鉴定以及对非常高成本的测序设备的需求的降低。

This Small Business Innovation Research (SBIR) Phase I project develops a novel process allowing rapid and cost-effective analysis of genetic variation between test and known, control genomes. The method, known as SEAL, will allow researchers to construct DNA libraries containing only these variations. This would be a breakthrough in technology as whole genome sequencing produces vast amounts of redundant data representing the test genome?s regions that are identical to the control genome. Using current sequencing technologies this redundant data imposes high generation and analysis costs without contributing any new information. This project will demonstrate the method?s feasibility by developing robust bacterial genome analysis applications. Each step of the multi-staged method will be tested to find optimal conditions. Phase II aims will be developing more complex human genomic applications.The broader impacts of this research are on how DNA sequencing is performed and DNA variation is assessed. Research areas impacted include: pharmacogenomic assessment for personalized medicine diagnostics, notably in cancer treatment; simpler, less data-intensive methods to collect the genetic variation information required for understanding complex diseases, such as diabetes and cardiovascular disease, and tools for discovery of new antibiotics for drug-resistant pathogens. The commercial value will be a dramatic decrease in the cost and time of genome sequencing, identification of biomarkers associated with appropriate treatments and decreased requirements for very high cost sequencing equipment.