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

这个小型企业创新研究(SBIR)第一阶段项目开发了一种新的过程，允许快速且经济高效地分析测试基因组和已知对照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只包含这些变异的DNA文库。这将是一项技术突破，因为全基因组测序产生了代表测试基因组的大量冗余数据-与对照基因组相同的S区域。使用当前的测序技术，这种冗余数据会在不提供任何新信息的情况下产生较高的生成和分析成本。该项目将通过开发强大的细菌基因组分析应用程序来证明方法S的可行性。将对多阶段方法的每一步进行测试，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。这项研究的更广泛影响是如何进行DNA测序和评估DNA变异。受影响的研究领域包括：个性化药物诊断的药物基因组评估，特别是在癌症治疗中；收集了解复杂疾病(如糖尿病和心血管疾病)所需的基因变异信息的更简单、数据密集度较低的方法，以及为耐药病原体发现新抗生素的工具。商业价值将是基因组测序成本和时间的大幅降低，与适当治疗相关的生物标记物的识别，以及对非常高成本测序设备的需求减少。

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.