SBIR Phase I: Innovative software and database tools for targeted genomics

这个小企业创新研究（SBIR）项目的更广泛的影响/商业潜力是开发一个独特的云计算平台，该平台具有新颖的数据库和生物信息学软件包，以满足对变革性基础资源的强烈需求，这些资源对于解释基因组内部和基因组之间的DNA变异的生物学功能至关重要。目标是针对研究人类基因组学和疾病、比较和进化基因组学、系统生物学、动物卫生和兽医科学以及野生动物生物多样性和保护的广泛实验室。该产品将为推进跨学科研究提供机会，以跟上DNA序列变异发现的加速速度，推动基因组学行业的非凡增长。这一愿景是基于基因组学市场持续快速增长的预测（以数十亿美元计），以及对综合工具和服务的需求随之增加。该技术将使客户节省时间和研究成本，体验效率和准确性的大幅提高，并在精确的细节上探索复杂的基因网络和途径。这个SBIR一期项目的智力价值是解决基因组工作流程中的一个关键僵局，即DNA变异功能的不一致或不可靠鉴定阻碍了可操作的发现。使用该技术开发提供的定制生物信息学工具套件，客户将能够查询数据库中任何感兴趣的基因或基因系统，确定基因在功能空间内耐受的DNA变化的正常范围，并根据此基线筛选自己的数据，以确定导致生物功能和表型性状改变的变异。研究目标包括：从数千个基因中编译专有的和新颖的DNA序列，在共同祖先的指导下建立并确认这些基因序列的精确排列，以创建数据库框架，制定产品软件和内容计划，指导用户正确使用数据库并解释变异功能。制定策略，确保产品安全和云计算服务数据的可视化和显示，以保护用户数据在软件内部传递时的处理。该奖项反映了美国国家科学基金会的法定使命，并通过使用基金会的知识价值和更广泛的影响审查标准进行评估，被认为值得支持。

The broader impact/commercial potential of this Small Business Innovation Research (SBIR) project is the development of a unique cloud computing platform with a novel database and bioinformatic software package to address the strong demand for transformative foundational resources crucial to interpret the biological function of DNA variation sequestered within and between genomes. The goal is to target a broad scope of laboratories investigating human genomics and disease, comparative and evolutionary genomics, systems biology, animal health and veterinary sciences, and wildlife biodiversity and conservation. The product will offer opportunities to advance cross-disciplinary research to keep pace with the accelerating rate of DNA sequence variant discoveries driving the extraordinary growth of the genomics industry. This vision is founded on the continued rapid growth projections (in billions of dollars) for the genomics market and the concomitant increase in the need for integrative tools and services. The technology will allow customers to save time and research costs, experience substantial increases in efficiency and accuracy, and explore, in precise detail, complex gene networks and pathways. The intellectual merit of this SBIR Phase I project is to resolve a critical impasse in genomic workflow where inconsistent or unreliable identification of DNA variant function prevents actionable discoveries. Using the customized suite of bioinformatic tools provided by this technology development, the customer will be able to interrogate the database for any gene or gene system of interest, determine the normal range of DNA changes tolerated by the gene within functional space, and screen their own data against this baseline to identify variants causative in altered biological function and phenotypic traits. The research objectives include: Compiling proprietary and novel DNA sequences from thousands of genes, establishing and confirming the precise arrangement of these gene sequences guided by shared common ancestry to create the database framework, establishing a plan for product software and content to guide the user through proper use of the database and interpret variant function, and developing strategies to ensure product security and cloud-computing service data visualization and display to protect the processing of user data when passed within the software.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.